SMN expression is required in motor neurons to rescue electrophysiological deficits in the SMNΔ7 mouse model of SMA

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SMA is an autosomal recessive neuromuscular disorder that results from the loss of the Survival Motor Neuron 1 (SMN1) gene and retention of the SMN2 gene. The SMN2 gene produces an insufficient amount o …"><meta name="keywords" content="pmid:26206889, PMC4572068, doi:10.1093/hmg/ddv283, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Vicki L McGovern, Chitra C Iyer, Arthur H M Burghes, Action Potentials, Animals, Disease Models, Animal, Electrophysiological Phenomena, Humans, Mice, Mice, Transgenic, Motor Neurons / metabolism, Motor Neurons / physiology*, Muscle, Skeletal / physiology*, Muscular Atrophy, Spinal / genetics, Muscular Atrophy, Spinal / metabolism, Muscular Atrophy, Spinal / physiopathology*, Sequence Deletion, Survival of Motor Neuron 1 Protein / genetics*, Survival of Motor Neuron 1 Protein / metabolism*, PubMed Abstract, NIH, NLM, NCBI, National Institutes of Health, National Center for Biotechnology Information, National Library of Medicine, MEDLINE"><meta name="robots" content="index,nofollow,noarchive"><meta property="og:title" content="SMN expression is required in motor neurons to rescue electrophysiological deficits in the SMNΔ7 mouse model of SMA - PubMed"><meta property="og:url" content="https://pubmed.ncbi.nlm.nih.gov/26206889/"><meta property="og:description" content="Proximal spinal muscular atrophy (SMA) is the most frequent cause of hereditary infant mortality. SMA is an autosomal recessive neuromuscular disorder that results from the loss of the Survival Motor Neuron 1 (SMN1) gene and retention of the SMN2 gene. 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SMA is an autosomal recessive neuromuscular disorder that results from the loss of the Survival Motor Neuron 1 (SMN1) gene and retention of the SMN2 gene. 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new collection</label> </li> <li> <input type="radio" id="collections-action-panel-existing" class="collections-existing" name="collections" value="existing" checked="true" data-ga-category="save_share" data-ga-action="collections" data-ga-label="collections_radio_existing"> <label for="collections-action-panel-existing">Add to an existing collection</label> </li> </ul> </div> <div class="controls-wrapper"> <div class="action-panel-control-wrap new-collections-controls"> <label for="collections-action-panel-add-to-new" class="action-panel-label required-field-asterisk"> Name your collection: </label> <input type="text" name="add-to-new-collection" id="collections-action-panel-add-to-new" class="collections-action-add-to-new" pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/" maxlength="100" data-ga-category="save_share" data-ga-action="create_collection" data-ga-label="non_favorties_collection"> <div class="collections-new-name-too-long usa-input-error-message selection-validation-message"> Name must be less than 100 characters </div> </div> <div class="action-panel-control-wrap existing-collections-controls"> <label for="collections-action-panel-add-to-existing" class="action-panel-label"> Choose a collection: </label> <select id="collections-action-panel-add-to-existing" class="action-panel-selector collections-action-add-to-existing" data-ga-category="save_share" data-ga-action="select_collection" data-ga-label="($('#collections-action-add-to-existing').val() === 'Favorites') ? 'Favorites' : 'non_favorites_collection'"> </select> <div class="collections-retry-load-on-error usa-input-error-message selection-validation-message"> Unable to load your collection due to an error<br> <a href="#">Please try again</a> </div> </div> </div> <div class="action-panel-actions"> <button class="action-panel-submit" type="submit" data-loading-label="Adding..." data-pinger-ignore data-ga-category="save_share" data-ga-action="collections" data-ga-label="add"> Add </button> <button class="action-panel-cancel" aria-label="Close 'Add to Collections' panel" ref="linksrc=close_collections_panel" aria-controls="collections-action-panel" aria-expanded="false" data-ga-category="save_share" data-ga-action="collections" data-ga-label="cancel"> Cancel </button> </div> </form> </div> </div> <div id="bibliography-action-panel" class="bibliography-action-panel action-panel in-progress-dots-panel" aria-hidden="true" data-bibliography-open-panel-enabled="false" data-bibliography-open-panel-url-hash="#open-bibliography-panel"> <div class="inner-wrap"> <h3 class="action-panel-heading"> Add to My Bibliography </h3> <form id="bibliography-action-panel-form" class="bibliography-action-panel-form action-panel-content action-form action-panel-smaller-selectors" data-add-to-bibliography-max-amount="100" data-add-to-bibliography-batch-size="10" data-bibliography-delegates-url="/list-bibliography-delegates/" data-add-to-bibliography-url="/add-to-bibliography/" data-get-article-ids-by-search-url="/get-article-ids-by-search/" data-mybib-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/mybibliography/"> <input type="hidden" name="csrfmiddlewaretoken" value="qUVT873ynkMpPCJQ6ksbBsLUuH5V134spv9HwhjEtH3H3zF0nCTqSV3GfeLlEV5p"> <div class="action-panel-control-wrap bibliographies-controls"> <div class="choice-group"> <ul class="bibliographies-action-add radio-group-items"> <li> <input name="bibliography" id="my-bibliography" class="my-bibliography" type="radio" checked/> <label for="my-bibliography">My Bibliography</label> </li> </ul> </div> </div> <div class="bibliographies-retry-load-on-error usa-input-error-message selection-validation-message"> Unable to load your delegates due to an error<br> <a href="#">Please try again</a> </div> <div class="action-panel-actions"> <button class="action-panel-submit" type="submit" data-loading-label="Adding..." data-pinger-ignore> Add </button> <button class="action-panel-cancel" aria-label="Close 'Add to bibliography' panel" ref="linksrc=close_bibliography_panel" aria-controls="bibliography-action-panel" aria-expanded="false" data-ga-category="save_share" data-ga-action="mybib" data-ga-label="cancel"> Cancel </button> </div> </form> </div> </div> <div id="saved-search-action-panel" class="saved-search-action-panel action-panel " aria-hidden="true" data-saved-search-open-panel-enabled="false" data-saved-search-open-panel-url-hash="#open-saved-search-panel"> <div class="inner-wrap"> <h2 class="action-panel-heading"> Your saved search </h2> <form id="saved-search-action-panel-form" class="saved-search-action-panel-form action-panel-content action-form" data-create-saved-search-url="/create-saved-search/" data-try-search-terms-url="/try-search-term/" data-saved-search-root-url="https://www.ncbi.nlm.nih.gov/myncbi/searches/"> <input type="hidden" name="csrfmiddlewaretoken" value="qUVT873ynkMpPCJQ6ksbBsLUuH5V134spv9HwhjEtH3H3zF0nCTqSV3GfeLlEV5p"> <div class="action-panel-control-wrap"> <label for="saved-search-name" class="action-panel-label saved-search-name-label required-field-asterisk"> Name of saved search: </label> <input maxlength="200" type="text" name="saved-search-name" id="saved-search-name" class="saved-search-name" value="" required pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/"> </div> <div class="action-panel-control-wrap"> <label for="saved-search-term" class="action-panel-label required-field-asterisk"> Search terms: </label> <textarea name="saved-search-term" id="saved-search-term" class="saved-search-term" required></textarea> </div> <div class="test-search-term-wrap"> <a href="#" class="try-search-term">Test search terms</a> </div> <div class="choice-group action-panel-extra-margin-top"> <span class="action-panel-label" id="fieldset-label"> Would you like email updates of new search results? </span> <fieldset id="saved-search-alert" aria-describedby="fieldset-label"> <legend class="usa-sr-only">Saved Search Alert Radio Buttons</legend> <ul class="radio-group-items"> <li> <input type="radio" id="saved-search-alert-yes" class="saved-search-alert-yes" name="saved-search-alert" value="yes" checked> <label for="saved-search-alert-yes" class="action-panel-label">Yes</label> </li> <li> <input aria-label="No radio input" type="radio" id="saved-search-alert-no" class="saved-search-alert-no" name="saved-search-alert" value="no"> <label for="saved-search-alert-no" class="action-panel-label">No</label> </li> </ul> </fieldset> </div> <div class="alert-schedule-wrap"> <div class="action-panel-control-wrap"> <label class="action-panel-label"> Email: </label> <span aria-label="Email address" id="saved-search-email" class="action-panel-label"><span class="action-panel-label-bold"></span> (<a class="myncbi-account-settings" href="https://www.ncbi.nlm.nih.gov/account/settings/">change</a>)</span> </div> <div class="action-panel-control-wrap action-panel-extra-margin-top"> <label for="saved-search-frequency" class="action-panel-label"> Frequency: </label> <select id="saved-search-frequency" class="no-border-panel-selector saved-search-frequency"> <option value="monthly">Monthly</option> <option value="weekly">Weekly</option> <option value="daily">Daily</option> </select> </div> <div class="action-panel-control-wrap saved-search-monthly-additional"> <label for="saved-search-monthly-on-day" class="action-panel-label"> Which day? </label> <select id="saved-search-monthly-on-day" class="no-border-panel-selector"> <option value="Sunday">The first Sunday</option> <option value="Monday">The first Monday</option> <option value="Tuesday">The first Tuesday</option> <option value="Wednesday">The first Wednesday</option> <option value="Thursday">The first Thursday</option> <option value="Friday">The first Friday</option> <option value="Saturday">The first Saturday</option> <option value="day">The first day</option> <option value="weekday">The first weekday</option> </select> </div> <div class="action-panel-control-wrap saved-search-weekly-additional"> <label for="saved-search-weekly-on-day" class="action-panel-label"> Which day? </label> <select id="saved-search-weekly-on-day" class="no-border-panel-selector saved-search-weekly-on-day"> <option value="Sunday">Sunday</option> <option value="Monday">Monday</option> <option value="Tuesday">Tuesday</option> <option value="Wednesday">Wednesday</option> <option value="Thursday">Thursday</option> <option value="Friday">Friday</option> <option value="Saturday">Saturday</option> </select> </div> <div class="action-panel-control-wrap"> <label for="saved-search-report" class="action-panel-label"> Report format: </label> <select id="saved-search-report" class="no-border-panel-selector saved-search-report"> <option value="DocSum">Summary</option> <option value="DocSumText">Summary (text)</option> <option value="Abstract">Abstract</option> <option value="AbstractText">Abstract (text)</option> <option value="MEDLINE">PubMed</option> </select> </div> <div class="action-panel-control-wrap"> <label for="saved-search-amount" class="action-panel-label"> Send at most: </label> <select id="saved-search-amount" class="no-border-panel-selector saved-search-amount"> <option value="1">1 item</option> <option value="5" selected>5 items</option> <option value="10">10 items</option> <option value="20">20 items</option> <option value="50">50 items</option> <option value="100">100 items</option> <option value="200">200 items</option> </select> </div> <div> <input type="checkbox" id="saved-search-send-if-no-result" class="saved-search-send-if-no-result" name="saved-search-send-if-no-result"> <label for="saved-search-send-if-no-result" class="action-panel-label smaller-checkbox"> Send even when there aren't any new results </label> </div> <div class="action-panel-control-wrap option-text-in-email-wrap"> <label for="saved-search-email-text" class="action-panel-label"> Optional text in email: </label> <textarea name="saved-search-email-text" id="saved-search-email-text" class="saved-search-email-text"></textarea> </div> </div> <div class="action-panel-actions"> <button class="action-panel-submit" type="submit" data-loading-label="Saving..." data-ga-category="save_share" data-ga-action="alert" data-ga-label="save"> Save </button> <button class="action-panel-cancel" aria-label="Close 'Your saved search' panel" ref="linksrc=close_saved_search_panel" aria-controls="saved-search-action-panel" aria-expanded="false" data-ga-category="save_share" data-ga-action="alert" data-ga-label="cancel"> Cancel </button> </div> </form> </div> </div> <div id="citation-manager-action-panel" class="citation-manager-action-panel action-panel" aria-hidden="true"> <div class="inner-wrap"> <h2 class="action-panel-heading"> Create a file for external citation management software </h2> <form id="citation-manager-action-panel-form" class="action-panel-content action-form" action="/results-export-ids/" data-by-search-action="/results-export-search-data/" data-by-ids-action="/results-export-ids/" method="post" data-by-search-method="post" data-by-ids-method="post"> <input type="hidden" name="csrfmiddlewaretoken" value="qUVT873ynkMpPCJQ6ksbBsLUuH5V134spv9HwhjEtH3H3zF0nCTqSV3GfeLlEV5p"> <input name="results-format" type="hidden" value="pubmed"/> <div class="action-panel-actions"> <button class="action-panel-submit" type="submit" data-loading-label="Sending..." data-ga-category="save_share" data-ga-action="citation_manager" data-ga-label="save"> Create file </button> <button class="action-panel-cancel" aria-label="Close 'Send citations to citation manager' panel" ref="linksrc=close_citation_manager_panel" aria-controls="citation-manager-action-panel" aria-expanded="false" data-ga-category="save_share" data-ga-action="citation_manager" data-ga-label="cancel"> Cancel </button> </div> </form> </div> </div> <div id="rss-action-panel" class="rss-action-panel action-panel " aria-hidden="true"> <div class="inner-wrap"> <h2 class="action-panel-heading"> Your RSS Feed </h2> <form id="rss-action-panel-form" class="rss-action-panel-form action-panel-content action-form" data-create-rss-feed-url="/create-rss-feed-url/" data-search-form-term-value=""> <input type="hidden" name="csrfmiddlewaretoken" value="qUVT873ynkMpPCJQ6ksbBsLUuH5V134spv9HwhjEtH3H3zF0nCTqSV3GfeLlEV5p"> <div class="action-panel-control-wrap"> <label for="rss-name" class="action-panel-label required-field-asterisk"> Name of RSS Feed: </label> <input maxlength="200" placeholder="Name" type="text" name="rss-name" id="rss-name" class="rss-name" value='' required pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/"> </div> <div class="rss-limit-wrap"> <div class="action-panel-control-wrap action-panel-extra-margin-top"> <label for="rss-limit" class="action-panel-label"> Number of items displayed: </label> <select id="rss-limit" class="no-border-panel-selector rss-limit"> <option value="5">5</option> <option value="10">10</option> <option value="15" selected="selected">15</option> <option value="20">20</option> <option value="50">50</option> <option value="100">100</option> </select> </div> </div> <div class="action-panel-actions"> <button class="action-panel-submit" type="submit" data-loading-label="Creating..." data-ga-category="save_share" data-ga-action="alert" data-ga-label="save"> Create RSS </button> 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Mol Genet </button><div id="full-view-journal" class="journal-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for journal Human molecular genetics"><div class="title">Actions</div><div class="content"><ul class="journal-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Hum+Mol+Genet%22%5Bjour%5D&sort=date&sort_order=desc" data-href="/?term=%22Hum+Mol+Genet%22%5Bjour%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_journal_name_link&journal_abbrev=Hum Mol Genet" data-ga-category="search" data-ga-action="journal_link" data-ga-label="Hum Mol Genet"> Search in PubMed </a></li><li><a class="search-in-nlm-catalog-link dropdown-block-link" ref ="linksrc=search_in_nlm_catalog_link" href="https://www.ncbi.nlm.nih.gov/nlmcatalog?term=%22Hum+Mol+Genet%22%5BTitle+Abbreviation%5D" data-ga-category="search_catalog" data-ga-action="journal_link" data-ga-label="Hum Mol Genet"> Search in NLM Catalog </a></li><li><a class="add-to-search-link dropdown-block-link" ref ="linksrc=add_to_search_link" role="button" data-search-term='"Hum Mol Genet"[jour]' data-ga-category="search" data-ga-action="add_to_search" data-ga-label='"Hum Mol Genet"[jour]' href="#"> Add to Search </a></li></ul></div></div></div><span class="period">. </span><span class="cit">2015 Oct 1;24(19):5524-41.</span> </div> <span class="citation-doi"> doi: 10.1093/hmg/ddv283. </span> <span class="secondary-date"> Epub 2015 Jul 23. </span> </div> <h1 class="heading-title"> SMN expression is required in motor neurons to rescue electrophysiological deficits in the SMNΔ7 mouse model of SMA </h1> <div class="inline-authors"> <div class="authors"> <div class="authors-list"> <span class="authors-list-item "><a class="full-name" href="/?term=McGovern+VL&cauthor_id=26206889" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Vicki L McGovern">Vicki L McGovern</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Molecular and Cellular Biochemistry, The Ohio State University Wexner Medical Center, Columbus, OH 43210, USA." href="#full-view-affiliation-1" ref="linksrc=author_aff"> 1 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Iyer+CC&cauthor_id=26206889" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Chitra C Iyer">Chitra C Iyer</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Molecular and Cellular Biochemistry, The Ohio State University Wexner Medical Center, Columbus, OH 43210, USA." href="#full-view-affiliation-1" ref="linksrc=author_aff"> 1 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Arnold+WD&cauthor_id=26206889" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="W David Arnold">W David Arnold</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, OH 43210, USA Department of Physical Medicine and Rehabilitation, The Ohio State University Wexner Medical Center, Columbus, OH 43210, USA Department of Neuroscience, The Ohio State University Wexner Medical Center, Columbus, OH 43210, USA and." href="#full-view-affiliation-2" ref="linksrc=author_aff"> 2 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Gombash+SE&cauthor_id=26206889" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Sara E Gombash">Sara E Gombash</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Neuroscience, The Ohio State University Wexner Medical Center, Columbus, OH 43210, USA and." href="#full-view-affiliation-3" ref="linksrc=author_aff"> 3 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Zaworski+PG&cauthor_id=26206889" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Phillip G Zaworski">Phillip G Zaworski</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="PharmOptima, LLC, Portage, MI 49002, USA." href="#full-view-affiliation-4" ref="linksrc=author_aff"> 4 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Blatnik+AJ+3rd&cauthor_id=26206889" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Anton J Blatnik 3rd">Anton J Blatnik 3rd</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Molecular and Cellular Biochemistry, The Ohio State University Wexner Medical Center, Columbus, OH 43210, USA." href="#full-view-affiliation-1" ref="linksrc=author_aff"> 1 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Foust+KD&cauthor_id=26206889" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Kevin D Foust">Kevin D Foust</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Neuroscience, The Ohio State University Wexner Medical Center, Columbus, OH 43210, USA and." href="#full-view-affiliation-3" ref="linksrc=author_aff"> 3 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Burghes+AH&cauthor_id=26206889" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Arthur H M Burghes">Arthur H M Burghes</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Molecular and Cellular Biochemistry, The Ohio State University Wexner Medical Center, Columbus, OH 43210, USA Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, OH 43210, USA burghes.1@osu.edu." href="#full-view-affiliation-5" ref="linksrc=author_aff"> 5 </a></sup></span> </div> </div> </div> <div class="short-article-details"> Affiliations <button class="more-details" id="toggle-authors" data-alt-text="Collapse" aria-controls="expanded-authors" aria-expanded="false" data-pinger-ignore data-fetch-url="/26206889/long-authors/" data-id-prefix=""> <span class="title"> Expand </span> </button> </div> <div class="extended-article-details" id="expanded-authors" aria-hidden="true"> <div class="expanded-authors" id="full-view-expanded-authors"> <div class="affiliations"> <h3 class="title"> Affiliations </h3> <ul class="item-list"> <li data-affiliation-id="full-view-affiliation-1" id="full-view-affiliation-1" ><sup class="key">1</sup> Department of Molecular and Cellular Biochemistry, The Ohio State University Wexner Medical Center, Columbus, OH 43210, USA.</li> <li data-affiliation-id="full-view-affiliation-2" id="full-view-affiliation-2" ><sup class="key">2</sup> Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, OH 43210, USA Department of Physical Medicine and Rehabilitation, The Ohio State University Wexner Medical Center, Columbus, OH 43210, USA Department of Neuroscience, The Ohio State University Wexner Medical Center, Columbus, OH 43210, USA and.</li> <li data-affiliation-id="full-view-affiliation-3" id="full-view-affiliation-3" ><sup class="key">3</sup> Department of Neuroscience, The Ohio State University Wexner Medical Center, Columbus, OH 43210, USA and.</li> <li data-affiliation-id="full-view-affiliation-4" id="full-view-affiliation-4" ><sup class="key">4</sup> PharmOptima, LLC, Portage, MI 49002, USA.</li> <li data-affiliation-id="full-view-affiliation-5" id="full-view-affiliation-5" ><sup class="key">5</sup> Department of Molecular and Cellular Biochemistry, The Ohio State University Wexner Medical Center, Columbus, OH 43210, USA Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, OH 43210, USA burghes.1@osu.edu.</li> </ul> </div> </div> </div> <ul class="identifiers" id="full-view-identifiers"> <li> <span class="identifier pubmed"> <span class="id-label"> PMID: </span> <strong class="current-id" title="PubMed ID">26206889</strong> </span> </li> <li> <span class="identifier pmc"> <span class="id-label"> PMCID: </span> <a class="id-link" target="_blank" rel="noopener" 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</span> <span class="citation-journal"> Hum Mol Genet<span class="citation-separator">.</span> </span> <span class="date"> <time class="citation-year" datetime="2015">2015</time><span class="citation-separator">.</span> </span> </div> <div class="more-article-details-section with-display-settings"> <button class="more-article-details" id="toggle-article-details" data-alt-text="Hide details" ref="linksrc=toggle_article_details" aria-controls="full-article-details" aria-expanded="false" data-fetch-url="/26206889/long-authors/" data-id-prefix=""> <span class="title">Show details</span> </button> <div class="display-options" data-format-key="format" data-default-format-value="abstract" data-current-format-value="abstract" role="region"> <button class="trigger usa-button" title="Change format" data-ga-category="display_options" data-ga-action="display_options_dialog"> <span class="button-label">Display options</span> </button> <div class="dropdown" hidden> <div class="title"> Display 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href="#short-view-affiliation-1" ref="linksrc=author_aff"> 1 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Iyer+CC&cauthor_id=26206889" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Chitra C Iyer">Chitra C Iyer</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Molecular and Cellular Biochemistry, The Ohio State University Wexner Medical Center, Columbus, OH 43210, USA." href="#short-view-affiliation-1" ref="linksrc=author_aff"> 1 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Arnold+WD&cauthor_id=26206889" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="W David Arnold">W David Arnold</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, OH 43210, USA Department of Physical Medicine and Rehabilitation, The Ohio State University Wexner Medical Center, Columbus, OH 43210, USA Department of Neuroscience, The Ohio State University Wexner Medical Center, Columbus, OH 43210, USA and." href="#short-view-affiliation-2" ref="linksrc=author_aff"> 2 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Gombash+SE&cauthor_id=26206889" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Sara E Gombash">Sara E Gombash</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Neuroscience, The Ohio State University Wexner Medical Center, Columbus, OH 43210, USA and." href="#short-view-affiliation-3" ref="linksrc=author_aff"> 3 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Zaworski+PG&cauthor_id=26206889" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Phillip G Zaworski">Phillip G Zaworski</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="PharmOptima, LLC, Portage, MI 49002, USA." href="#short-view-affiliation-4" ref="linksrc=author_aff"> 4 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Blatnik+AJ+3rd&cauthor_id=26206889" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Anton J Blatnik 3rd">Anton J Blatnik 3rd</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Molecular and Cellular Biochemistry, The Ohio State University Wexner Medical Center, Columbus, OH 43210, USA." href="#short-view-affiliation-1" ref="linksrc=author_aff"> 1 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Foust+KD&cauthor_id=26206889" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Kevin D Foust">Kevin D Foust</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Neuroscience, The Ohio State University Wexner Medical Center, Columbus, OH 43210, USA and." href="#short-view-affiliation-3" ref="linksrc=author_aff"> 3 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Burghes+AH&cauthor_id=26206889" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Arthur H M Burghes">Arthur H M Burghes</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Molecular and Cellular Biochemistry, The Ohio State University Wexner Medical Center, Columbus, OH 43210, USA Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, OH 43210, USA burghes.1@osu.edu." href="#short-view-affiliation-5" ref="linksrc=author_aff"> 5 </a></sup></span> </div> </div> <div class="affiliations"> <h3 class="title"> Affiliations </h3> <ul class="item-list"> <li data-affiliation-id="short-view-affiliation-1" id="short-view-affiliation-1" ><sup class="key">1</sup> Department of Molecular and Cellular Biochemistry, The Ohio State University Wexner Medical Center, Columbus, OH 43210, USA.</li> <li data-affiliation-id="short-view-affiliation-2" id="short-view-affiliation-2" ><sup class="key">2</sup> Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, OH 43210, USA Department of Physical Medicine and Rehabilitation, The Ohio State University Wexner Medical Center, Columbus, OH 43210, USA Department of Neuroscience, The Ohio State University Wexner Medical Center, Columbus, OH 43210, USA and.</li> <li data-affiliation-id="short-view-affiliation-3" id="short-view-affiliation-3" ><sup class="key">3</sup> Department of Neuroscience, The Ohio State University Wexner Medical Center, Columbus, OH 43210, USA and.</li> <li data-affiliation-id="short-view-affiliation-4" id="short-view-affiliation-4" ><sup class="key">4</sup> PharmOptima, LLC, Portage, MI 49002, USA.</li> <li data-affiliation-id="short-view-affiliation-5" id="short-view-affiliation-5" ><sup class="key">5</sup> Department of Molecular and Cellular Biochemistry, The Ohio State University Wexner Medical Center, Columbus, OH 43210, USA Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, OH 43210, USA burghes.1@osu.edu.</li> </ul> </div> </div> <ul class="identifiers" id="short-view-identifiers"> <li> <span class="identifier pubmed"> <span class="id-label"> PMID: </span> <strong class="current-id" title="PubMed ID">26206889</strong> </span> </li> <li> <span class="identifier pmc"> <span class="id-label"> PMCID: </span> <a class="id-link" target="_blank" rel="noopener" ref="linksrc=article_id_link&article_id=PMC4572068&id_type=PMC" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC4572068/" data-ga-category="full_text" data-ga-action="PMCID" > PMC4572068 </a> </span> </li> <li> <span class="identifier doi"> <span class="id-label"> DOI: </span> <a class="id-link" target="_blank" rel="noopener" ref="linksrc=article_id_link&article_id=10.1093/hmg/ddv283&id_type=DOI" href="https://doi.org/10.1093/hmg/ddv283" data-ga-category="full_text" data-ga-action="DOI" > 10.1093/hmg/ddv283 </a> </span> </li> </ul> <div class="in-clipboard-label " hidden> Item in Clipboard </div> </div> </div> </header> <div class="actions-buttons inline"><div class="inner-wrap"><button class="full-text-links-button full-text-links-dialog-trigger" title="Open dialog with full text links" ref="linksrc=full_text_links"> Full text links </button><button class="citation-button citation-dialog-trigger" aria-label="Open dialog with citation text in different styles" data-ga-category="save_share" data-ga-action="cite" data-ga-label="open" data-all-citations-url="/26206889/citations/" data-citation-style="nlm" data-pubmed-format-link="/26206889/export/"><span class="button-label">Cite</span></button><button class="more-actions-button more-actions-dialog-trigger" title="Open dialog with more actions to take" ref="linksrc=more_actions_btn"></button><div class="display-options" data-format-key="format" data-default-format-value="abstract" data-current-format-value="abstract" role="region"><button class="trigger usa-button" title="Change format" data-ga-category="display_options" data-ga-action="display_options_dialog"><span class="button-label">Display options</span></button><div class="dropdown" hidden><div class="title"> Display options </div><div class="content"><div class="format-container"><span class="option-label"> Format </span><select name="format" data-initial-value="abstract" aria-label="Display format" id="inline-actions-display-format"><option value="abstract">Abstract</option><option value="pubmed">PubMed</option><option value="pmid">PMID</option></select></div></div></div></div></div></div> <div class="abstract" id="abstract"> <h2 class="title"> Abstract </h2> <div class="abstract-content selected" id="eng-abstract"> <p> Proximal spinal muscular atrophy (SMA) is the most frequent cause of hereditary infant mortality. SMA is an autosomal recessive neuromuscular disorder that results from the loss of the Survival Motor Neuron 1 (SMN1) gene and retention of the SMN2 gene. The SMN2 gene produces an insufficient amount of full-length SMN protein that results in loss of motor neurons in the spinal cord and subsequent muscle paralysis. Previously we have shown that overexpression of human SMN in neurons in the SMA mouse ameliorates the SMA phenotype while overexpression of human SMN in skeletal muscle had no effect. Using Cre recombinase, here we show that either deletion or replacement of Smn in motor neurons (ChAT-Cre) significantly alters the functional output of the motor unit as measured with compound muscle action potential and motor unit number estimation. However ChAT-Cre alone did not alter the survival of SMA mice by replacement and did not appreciably affect survival when used to deplete SMN. However replacement of Smn in both neurons and glia in addition to the motor neuron (Nestin-Cre and ChAT-Cre) resulted in the greatest improvement in survival of the mouse and in some instances complete rescue was achieved. These findings demonstrate that high expression of SMN in the motor neuron is both necessary and sufficient for proper function of the motor unit. Furthermore, in the mouse high expression of SMN in neurons and glia, in addition to motor neurons, has a major impact on survival. </p> </div> </div> <p class="copyright" id="copyright"> Published by Oxford University Press 2015. This work is written by (a) US Government employee(s) and is in the public domain in the US. </p> <p class="disclaimer" id="disclaimer"> <a href="/disclaimer/" target="_blank" ga_category="literature_resources" ga_action="disclaimer_link" ga_label="under_abstract">PubMed Disclaimer</a> </p> <div class="figures" id="figures"> <h2 class="title"> Figures </h2> <div class="figures-list" id="slides-container" itemscope itemtype="http://schema.org/ImageGallery"> <figure class="figure-item " itemscope itemtype="http://schema.org/ImageObject" itemprop="associatedMedia" data-slide-index="0" data-label-slug="figure-1"> <a class="figure-link" href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9980/4572068/efa38edcca31/ddv28301.jpg" itemprop="contentUrl" aria-describedby="figure-caption-0" role="button" data-image-width="633" data-image-height="786" data-image-alt="Figure 1." data-pmc-id="PMC4572068" data-figure-id="DDV283F1"> <img class="figure-thumb" itemprop="thumbnail" id="article-image-0" src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9980/4572068/141ac5cde51d/ddv28301.gif" alt="Figure 1." /> </a> <meta itemprop="width" itemtype="http://schema.org/ImageObject" content="633"> <meta itemprop="height" itemtype="http://schema.org/ImageObject" content="786"> <div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true"> <div class="caption-wrap"> <strong class="figure-label"> <p> Figure 1. </p> </strong> <div class="figure-caption-contents"><p> Diagram of Floxed <i> Smn </i> alleles… </p></div> </div> </div> <div class="figure-caption-medium figure-caption-text" aria-hidden="true"> <strong class="figure-label"> <p> Figure 1. </p> </strong> <div class="figure-caption-contents"><p> Diagram of Floxed <i> Smn </i> alleles and crosses used in this study. ( <b> A… </b> </p></div> </div> <figcaption id="figure-caption-0" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description"> <strong class="figure-label"> Figure 1. </strong> <div class="figure-caption-contents">Diagram of Floxed <i>Smn</i> alleles and crosses used in this study. (<b>A</b>) The disrupted <i>Smn</i> allele is referred to as <i>Smn</i><sup>KO</sup> (37). The Floxed exon 7 <i>Smn</i> allele is referred to as <i>Smn</i><sup>F7</sup> before recombination (32). After recombination when exon 7 is deleted the allele is called <i>Smn</i><sup>D7</sup>. For the replacement of <i>Smn</i>, the allele termed <i>Smn</i><sup>INV</sup>, contains human <i>Smn</i> exon 7 with flanking regions of intron followed by an inverted copy of mouse <i>Smn</i> exon 7 with flanking regions of intron (24,38). The two copies of exon 7 were cloned in between lox66 and a lox71 sites. Upon activation of recombination by a Cre driver the area between the lox sites is inverted resulting in a functional <i>Smn</i> exon 7 followed by an inverted <i>SMN</i> exon 7. After recombination this allele is referred to as <i>Smn</i><sup>Re</sup>. In all crosses the <i>Smn</i><sup>INV</sup> or <i>Smn</i><sup>F7</sup> alleles were crossed to mice that were heterozygous for the <i>Smn</i><sup>KO</sup> allele and contained a Cre driver. Thus all affected animals reported here are <i>Smn</i><sup>D7/KO</sup> or <i>Smn</i><sup>Re/KO</sup> after recombination. (<b>B</b>) Mice containing a Cre driver and heterozygous for the <i>Smn</i> knockout allele (<i>Smn<sup>KO</sup></i>) were crossed to mice homozygous for the floxed exon7 <i>Smn<sup>F7</sup></i> allele. Upon recombination the floxed exon7 <i>Smn</i> allele is referred to as <i>Smn</i><sup>D7</sup>. Similarly, mice that contain a Cre driver and are heterozygous for the <i>Smn</i> knockout allele (<i>Smn<sup>KO</sup></i>) were crossed to mice heterozygous for the floxed exon7 <i>Smn</i><sup>INV</sup> allele. Mice homozygous for the <i>Smn</i><sup>INV</sup> allele are not viable beyond 21 days of age. Upon recombination the floxed exon7 <i>Smn</i> allele is referred to as <i>Smn</i><sup>Re</sup>. Note that the progeny of these crosses only contain one deletion or replacement <i>Smn</i> allele over the <i>Smn</i><sup>KO</sup> knockout allele. This is to ensure maximal efficiency of the Cre driver on just one target allele. Moreover, the progeny of these crosses were only used for data analysis and not for breeding to eliminate the possibility of germ line recombination.</div> </figcaption> </figure> <figure class="figure-item " itemscope itemtype="http://schema.org/ImageObject" itemprop="associatedMedia" data-slide-index="1" data-label-slug="figure-2"> <a class="figure-link" href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9980/4572068/8ed90268e17c/ddv28302.jpg" itemprop="contentUrl" aria-describedby="figure-caption-1" role="button" data-image-width="700" data-image-height="860" data-image-alt="Figure 2." data-pmc-id="PMC4572068" data-figure-id="DDV283F2"> <img class="figure-thumb" itemprop="thumbnail" id="article-image-1" src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9980/4572068/4137b92425f3/ddv28302.gif" alt="Figure 2." /> </a> <meta itemprop="width" itemtype="http://schema.org/ImageObject" content="700"> <meta itemprop="height" itemtype="http://schema.org/ImageObject" content="860"> <div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true"> <div class="caption-wrap"> <strong class="figure-label"> <p> Figure 2. </p> </strong> <div class="figure-caption-contents"><i> Nestin-Cre </i> and <i> ChAT-Cre </i> expression in…</div> </div> </div> <div class="figure-caption-medium figure-caption-text" aria-hidden="true"> <strong class="figure-label"> <p> Figure 2. </p> </strong> <div class="figure-caption-contents"><i> Nestin-Cre </i> and <i> ChAT-Cre </i> expression in the spinal cord. Mice containing <i> ChAT-Cre </i> ( <b> A… </b></div> </div> <figcaption id="figure-caption-1" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description"> <strong class="figure-label"> Figure 2. </strong> <div class="figure-caption-contents"><i>Nestin-Cre</i> and <i>ChAT-Cre</i> expression in the spinal cord. Mice containing <i>ChAT-Cre</i> (<b>A</b>–<b>C</b>) or <i>Nestin-Cre</i> (<b>D</b>–<b>I</b>) were crossed <i>to tdTomato</i>-RFP reporter line where mice contained <i>HB9:GFP</i> transgene to label the motor neurons (B, E and H). (A–C) <i>ChAT-Cre</i> is heavily expressed in all motor neurons (arrow). Scale bar: 100 µm (D–I) <i>Nestin-Cre</i> is expressed throughout the white matter but very weakly in motor neurons (arrow). (G–I) Higher magnification inset image shown in the white box in images D–F. Representative images from <i>ChAT-Cre</i> mice (<i>n</i> = 3) and <i>Nestin-Cre</i> mice (<i>n</i> = 10) at P12. Scale bar: 100 µm in all panels.</div> </figcaption> </figure> <figure class="figure-item " itemscope itemtype="http://schema.org/ImageObject" itemprop="associatedMedia" data-slide-index="2" data-label-slug="figure-3"> <a class="figure-link" href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9980/4572068/1757d909735e/ddv28303.jpg" itemprop="contentUrl" aria-describedby="figure-caption-2" role="button" data-image-width="760" data-image-height="431" data-image-alt="Figure 3." data-pmc-id="PMC4572068" data-figure-id="DDV283F3"> <img class="figure-thumb" itemprop="thumbnail" id="article-image-2" src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9980/4572068/49cb85249d9c/ddv28303.gif" alt="Figure 3." /> </a> <meta itemprop="width" itemtype="http://schema.org/ImageObject" content="760"> <meta itemprop="height" itemtype="http://schema.org/ImageObject" content="431"> <div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true"> <div class="caption-wrap"> <strong class="figure-label"> <p> Figure 3. </p> </strong> <div class="figure-caption-contents"><p> The expression of the <i> Nestin-Cre… </i> </p></div> </div> </div> <div class="figure-caption-medium figure-caption-text" aria-hidden="true"> <strong class="figure-label"> <p> Figure 3. </p> </strong> <div class="figure-caption-contents"><p> The expression of the <i> Nestin-Cre </i> driver in the spinal cord. ( <b> A </b> )… </p></div> </div> <figcaption id="figure-caption-2" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description"> <strong class="figure-label"> Figure 3. </strong> <div class="figure-caption-contents">The expression of the <i>Nestin-Cre</i> driver in the spinal cord. (<b>A</b>) Nestin-Cre pattern of expression was determined by crossing mice to the tdTomato-RFP reporter line (red). (<b>B</b>) ChAT staining marks the motor neurons and (<b>C</b>) NeuN staining identifies the nuclei in spinal cord sections of P10 mice. (<b>D</b>) The merged image reveals a lack of Nestin-Cre expression in some motor neurons. The white arrow indicates a hole where tdTomato-RFP is not present. (<b>E</b>–<b>H</b>) Insets from the white boxes in A–D clearly show the absence of RFP in some motor neurons. Scale bars = 100 µm.</div> </figcaption> </figure> <figure class="figure-item " itemscope itemtype="http://schema.org/ImageObject" itemprop="associatedMedia" data-slide-index="3" data-label-slug="figure-4"> <a class="figure-link" href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9980/4572068/198f5de6f01c/ddv28304.jpg" itemprop="contentUrl" aria-describedby="figure-caption-3" role="button" data-image-width="760" data-image-height="716" data-image-alt="Figure 4." data-pmc-id="PMC4572068" data-figure-id="DDV283F4"> <img class="figure-thumb" itemprop="thumbnail" id="article-image-3" src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9980/4572068/f6ce2382e3b1/ddv28304.gif" alt="Figure 4." /> </a> <meta itemprop="width" itemtype="http://schema.org/ImageObject" content="760"> <meta itemprop="height" itemtype="http://schema.org/ImageObject" content="716"> <div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true"> <div class="caption-wrap"> <strong class="figure-label"> <p> Figure 4. </p> </strong> <div class="figure-caption-contents"><p> Survival and weight of SMA… </p></div> </div> </div> <div class="figure-caption-medium figure-caption-text" aria-hidden="true"> <strong class="figure-label"> <p> Figure 4. </p> </strong> <div class="figure-caption-contents"><p> Survival and weight of SMA mice are improved upon replacement of <i> Smn </i> with… </p></div> </div> <figcaption id="figure-caption-3" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description"> <strong class="figure-label"> Figure 4. </strong> <div class="figure-caption-contents">Survival and weight of SMA mice are improved upon replacement of <i>Smn</i> with neuron-specific Cre drivers. (<b>A</b>) Upon deletion of <i>Smn</i> from the motor neurons with <i>ChAT-Cre</i> 100% of the mice survived past 250 days with no SMA-like behavioral phenotype (mean survival >250 days, <i>n</i> = 7 total mice, <i>P</i> < 0.001 versus SMA). Deletion of <i>Smn</i> in all neurons and glia with <i>Nestin-Cre</i> resulted in 79% of mice living longer than 100 days (mean survival 205.4 ± 22.7 days, <i>n</i> = 18 total mice, <i>P</i> < 0.001 versus SMA). Deleting <i>Smn</i> with both <i>Nestin-Cre</i> + <i>ChAT-Cre</i> resulted in only 50% of the mice surviving past 100 days of age (mean survival 140.1 ± 20.5 days, <i>n</i> = 23 total mice, <i>P</i> < 0.001 versus SMA). SMA mice lived 14.3 ± 0.7 days, <i>n</i> = 16 mice. (<b>B</b>) At 36 weeks of age there was no significant difference between the weight of the <i>ChAT-Cre</i> deletion mice and controls (30.5 ± 1.8 g versus 33.3 ± 3.7 g). <i>Nestin-Cre</i> deletion mice were 19.6 ± 0.5 g and <i>Nestin-Cre</i> + <i>ChAT-Cre</i> deletion mice were 16.4 ± 0.7 g, which is approximately 50% smaller than control mice. (<b>C</b>) Replacement of <i>Smn</i> with the <i>ChAT-Cre</i> driver resulted in mice that lived 17.3 ± 2.7 days (<i>n</i> = 9, <i>P</i> = 0.3 versus SMA). Replacement of <i>Smn</i> with <i>Nestin-Cre</i> further increased survival to a mean of 30.5 ± 7.0 days (<i>n</i> = 14, <i>P</i> = 0.02 versus SMA). Finally replacement of <i>Smn</i> with both <i>Nestin-Cre</i> + <i>ChAT-Cre</i> increased survival so that 30% of the mice lived longer than 100 days (mean survival 80.4 ± 21.6 days, <i>n</i> = 16 total mice, <i>P</i> < 0.0001 versus SMA). (<b>D</b>) <i>ChAT-Cre</i> replacement mice weighed 5.4 ± 1.0 g at P16 while <i>Nestin-Cre</i> replacement mice weighted 4.9 ± 5.0 g. SMA mice at P16 weighed on average 2.7 ± 0.4 g. <i>Nestin-Cre</i> + <i>ChAT-Cre</i> replacement mice that survived past 100 days weighted approximately 50% less than controls at 36 weeks of age.</div> </figcaption> </figure> <figure class="figure-item " itemscope itemtype="http://schema.org/ImageObject" itemprop="associatedMedia" data-slide-index="4" data-label-slug="figure-5"> <a class="figure-link" href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9980/4572068/ab3b6e755ea1/ddv28305.jpg" itemprop="contentUrl" aria-describedby="figure-caption-4" role="button" data-image-width="782" data-image-height="1400" data-image-alt="Figure 5." data-pmc-id="PMC4572068" data-figure-id="DDV283F5"> <img class="figure-thumb" itemprop="thumbnail" id="article-image-4" src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9980/4572068/3d4b672edfee/ddv28305.gif" alt="Figure 5." /> </a> <meta itemprop="width" itemtype="http://schema.org/ImageObject" content="782"> <meta itemprop="height" itemtype="http://schema.org/ImageObject" content="1400"> <div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true"> <div class="caption-wrap"> <strong class="figure-label"> <p> Figure 5. </p> </strong> <div class="figure-caption-contents"><p> Muscle fiber size upon deletion… </p></div> </div> </div> <div class="figure-caption-medium figure-caption-text" aria-hidden="true"> <strong class="figure-label"> <p> Figure 5. </p> </strong> <div class="figure-caption-contents"><p> Muscle fiber size upon deletion with <i> Nestin-Cre </i> and <i> ChAT-Cre. </i> The gastrocnemius muscle from… </p></div> </div> <figcaption id="figure-caption-4" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description"> <strong class="figure-label"> Figure 5. </strong> <div class="figure-caption-contents">Muscle fiber size upon deletion with <i>Nestin-Cre</i> and <i>ChAT-Cre.</i> The gastrocnemius muscle from (<b>A</b>) control, (<b>B</b>) SMA, (<b>C</b>) Nestin-Cre <i>Smn</i>-deletion mice and (<b>D</b>) <i>Nestin-Cre</i> + <i>ChAT-Cre Smn</i>-deletion mice were measured at P8. Myofiber size in control mice at P8 (mean 387.8 ± 3.3 µm<sup>2</sup>; median 379.5 µm<sup>2</sup>) is significantly different from that of <i>Nestin-Cre Smn</i>-deletion mice (mean 277.5 ± 2.3 µm<sup>2</sup>; median 277.0 µm<sup>2</sup>), <i>Nestin-Cre</i> + <i>ChAT-Cre Smn</i>-deletion mice (mean 257.4 ± 2.5 µm<sup>2</sup>; median 247.0 µm<sup>2</sup>, <i>P</i> < 0.001). The <i>Nestin-Cre</i> + <i>ChAT-Cre Smn</i>-deletion mice however have myofiber areas similar to that of SMNΔ7 SMA mice at P8 (Mean 210.6 ± 1.9 µm<sup>2</sup>; median 205.1 µm<sup>2</sup>) (51). (<b>E</b>–<b>H</b>) The difference in myofiber area is more dramatic at P21 where (E) control mice (mean 835.9 ± 8.8 µm<sup>2</sup>; median 757.0 µm<sup>2</sup>) and (F) ChAT-Cre deletion mice (mean 559.6 ± 6.1 µm<sup>2</sup>, median 530.5 µm<sup>2</sup>) display larger fibers as compared with (G) Nestin-Cre deletion mice (mean 477.6 ± 4.8 µm<sup>2</sup>, median 447.0 µm<sup>2</sup>) and (H) <i>Nestin-Cre</i> + <i>ChAT-Cre Smn</i>-deletion mice (mean 302.7 ± 3.2 µm<sup>2</sup>; median 281.0 µm<sup>2</sup>, <i>P</i> < 0.001). There is no comparison to SMNΔ7 SMA mice at this time point because the SMNΔ7 SMA mice only live for 14 days. For each group, a total of 1500 fibers were measured from 3 mice (approx. 500 fibers per mouse).</div> </figcaption> </figure> <figure class="figure-item " itemscope itemtype="http://schema.org/ImageObject" itemprop="associatedMedia" data-slide-index="5" data-label-slug="figure-6"> <a class="figure-link" href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9980/4572068/d3185676a774/ddv28306.jpg" itemprop="contentUrl" aria-describedby="figure-caption-5" role="button" data-image-width="800" data-image-height="468" data-image-alt="Figure 6." data-pmc-id="PMC4572068" data-figure-id="DDV283F6"> <img class="figure-thumb" itemprop="thumbnail" id="article-image-5" src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9980/4572068/08e60898db68/ddv28306.gif" alt="Figure 6." /> </a> <meta itemprop="width" itemtype="http://schema.org/ImageObject" content="800"> <meta itemprop="height" itemtype="http://schema.org/ImageObject" content="468"> <div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true"> <div class="caption-wrap"> <strong class="figure-label"> <p> Figure 6. </p> </strong> <div class="figure-caption-contents"><p> Determination of Cre activity to… </p></div> </div> </div> <div class="figure-caption-medium figure-caption-text" aria-hidden="true"> <strong class="figure-label"> <p> Figure 6. </p> </strong> <div class="figure-caption-contents"><p> Determination of Cre activity to deplete or replace <i> Smn </i> . ( <b> A </b> )… </p></div> </div> <figcaption id="figure-caption-5" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description"> <strong class="figure-label"> Figure 6. </strong> <div class="figure-caption-contents">Determination of Cre activity to deplete or replace <i>Smn</i>. (<b>A</b>) Percent recombination of <i>Smn</i><sup>F7</sup> in motor neurons as determined by ddPCR. Motor neurons were isolated with LCM from P10-P12 mice. There was no recombination in mice that did not contain a <i>Cre</i> driver (0.6 ± 7.4%, <i>n</i> = 3). The <i>Sox2-Cre</i> ubiquitous driver resulted in recombination in all motor neurons (104.0 ± 1.1%, <i>n</i> = 3) (38). <i>Nestin-Cre</i> + <i>ChAT-Cre</i> drivers also gave complete recombination in all motor neurons (101.3 ± 1.7%, <i>n</i> = 3). The <i>ChAT-Cre</i> driver alone resulted in 88.7 ± 5.8% (<i>n</i> = 3, <i>P</i> = 0.004 versus <i>Nestin-Cre</i>). On average only half of all motor neurons underwent recombination with just the <i>Nestin-Cre</i> driver (51.3 ± 8.1%, <i>n</i> = 3, <i>P</i> = 0.004). The difference in recombination efficiencies between <i>ChAT-Cre</i> alone and <i>Nestin-Cre</i> + <i>ChAT-Cre</i> was not statistically significant (<i>P</i> = 0.274). All values are normalized to two copies of <i>Smn</i> intron 1. Percent recombination values were determined by multiplex ddPCR. (<b>B</b>) SMN protein expression as determined by western blot analysis. The alleles used are depicted on the <i>x</i> axis and amount of SMN relative to tubulin on the <i>y</i>. Note that the amount of SMN protein found upon deletion of <i>Smn</i> with <i>Nestin-Cre</i> + <i>ChAT-Cre</i> is not statistically different from that of the SMA sample (<i>P</i> = 0.782)<i>.</i> Conversely the replacement of <i>Smn</i> with <i>Nestin-Cre</i> + <i>ChAT-</i>Cre is not statistically different from that of the control sample (<i>P</i> = 0.322) (<b>C</b>) The number of SMN positive gems in motor neurons. All groups are statistically different by one-way ANOVA except for SMA versus <i>Nestin-Cre</i> + <i>ChAT-Cre</i> which are not different. Thus gem counts indicate equivalent levels of SMN protein in SMA- and <i>Smn</i>-deletion by <i>Nestin-Cre</i> + <i>ChAT-Cre</i>. (<b>D</b>) <i>Smn</i><sup>+/−</sup> spinal cord section revealing many motor neurons with gems. (<b>E</b>) <i>Smn</i><sup>−/−</sup> (SMA) sample showing lack of gems in motor neurons. (<b>F</b>) Nestin-Cre <i>Smn</i>-deletion sample shows a reduced number of gems in motor neurons. (<b>G</b>) <i>Nestin-Cre</i> + <i>ChAT-Cre</i>, <i>Smn</i>-deletion motor neurons reveal very few gems, similar to the SMA sample (<i>n</i> = 3 for each group).</div> </figcaption> </figure> <figure class="figure-item tail" itemscope itemtype="http://schema.org/ImageObject" itemprop="associatedMedia" data-slide-index="6" data-label-slug="figure-7"> <a class="figure-link" href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9980/4572068/7eb0d0666d63/ddv28307.jpg" itemprop="contentUrl" aria-describedby="figure-caption-6" role="button" data-image-width="799" data-image-height="1018" data-image-alt="Figure 7." data-pmc-id="PMC4572068" data-figure-id="DDV283F7"> <img class="figure-thumb" itemprop="thumbnail" id="article-image-6" src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9980/4572068/99a8b5302b6b/ddv28307.gif" alt="Figure 7." /> </a> <meta itemprop="width" itemtype="http://schema.org/ImageObject" content="799"> <meta itemprop="height" itemtype="http://schema.org/ImageObject" content="1018"> <div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true"> <div class="caption-wrap"> <strong class="figure-label"> <p> Figure 7. </p> </strong> <div class="figure-caption-contents"><p> Electrophysiological measures of motor unit… </p></div> </div> </div> <div class="figure-caption-medium figure-caption-text" aria-hidden="true"> <strong class="figure-label"> <p> Figure 7. </p> </strong> <div class="figure-caption-contents"><p> Electrophysiological measures of motor unit function following targeted <i> Smn </i> -deletion and restoration. (… </p></div> </div> <figcaption id="figure-caption-6" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description"> <strong class="figure-label"> Figure 7. </strong> <div class="figure-caption-contents">Electrophysiological measures of motor unit function following targeted <i>Smn</i>-deletion and restoration. (<b>A</b>) Compound muscle action potential (CMAP) at P21 in mice with <i>Smn</i>-deletion. Compound muscle action potential (CMAP) amplitudes at postnatal day 21 (P21) were reduced in <i>ChAT-Cre Smn</i>-deletion (<i>n</i> = 9, 20.4 ± 1.9, <i>P</i> < 0.05) and <i>Nestin-Cre</i> + <i>ChAT-Cre Smn</i>-deletion (<i>n</i> = 13, 26.1 ± 2.1, <i>P</i> = <0.05) but not <i>Nestin-Cre Smn</i>-deletion mice (<i>n</i> = 14, 35.7 ± 3.7) compared with controls (<i>n</i> = 13, 44.0 ± 2.9 mV). CMAP amplitudes in <i>ChAT-Cre Smn</i>-deletion mice were reduced compared with <i>Nestin-Cre Smn</i>-deletion mice (<i>P</i> < 0.05). (<b>B</b>) Motor unit number estimation (MUNE) at P21 in mice with <i>Smn</i>-deletion. Motor unit number estimates (MUNE) at P21 were reduced in <i>ChAT-Cre Smn</i>-deletion (<i>n</i> = 9, 142 ± 22), <i>Nestin-Cre</i> + <i>ChAT-Cre Smn</i>-deletion (<i>n</i> = 13, 117 ± 15), and <i>Nestin-Cre Smn</i>-deletion mice (<i>n</i> = 14, 179 ± 24) compared with controls (<i>n</i> = 13, 283 ± 15) (<i>P</i> < 0.001). (<b>C</b>) Electromyography of limb muscles of mice with <i>Smn</i> deletion. Fibrillations were noted in both <i>ChAT-Cre Smn</i>-deletion (four of five mice) and <i>Nestin-Cre</i> + <i>ChAT-Cre Smn</i>-deletion mice (six of seven mice) but are absent in <i>Nestin-Cre Smn</i>-deletion mice (zero of six) and control mice (zero of five) (<i>P</i> < 0.05). (<b>D</b>) CMAP amplitudes at P12 in mice with <i>Smn</i>-restoration. CMAP amplitudes at P12 in mice with <i>Nestin-Cre</i> + <i>ChAT-Cre Smn</i>-restoration (<i>n</i> = 9, 23.2 ± 3.3) were similar to control mice (<i>n</i> = 13, 24.8 ± 1.2 mV). Conversely, compared with control mice, CMAP amplitudes were reduced in mice with <i>Nestin-Cre</i>-restoration of <i>Smn</i> (<i>n</i> = 8, 17.3 ± 1.1 mV) and in SMA mice with no <i>Cre</i> (i.e. no <i>Smn</i>-restoration) (<i>n</i> = 12, 17.1 ± 0.8 mV) (<i>P</i> < 0.05). CMAP amplitudes were reduced though does not reach statistical significance in SMA mice with <i>ChAT-Cre</i>-restoration of <i>Smn</i> (<i>n</i> = 14, 18.8 ± 1.2 mV). (<b>E</b>) MUNE at P12 in mice with <i>Smn</i>-restoration. MUNE at P12 in mice with <i>ChAT-Cre Smn</i>-restoration (<i>n</i> = 14, 187 ± 16) and <i>Nestin-Cre</i> + <i>ChAT-Cre Smn</i>-restoration (<i>n</i> = 9, 201 ± 22) are similar to controls (<i>n</i> = 13, 196 ± 16, <i>P</i> = 0.962), but MUNE are reduced in mice with <i>Nestin-Cre</i>-restoration of <i>Smn</i> (<i>n</i> = 8, 118 ± 16) and SMA mice with no Cre (i.e. no <i>Smn</i>-restoration) (119 ± 9) (<i>P</i> < 0.05). Compared with mice with <i>Nestin-Cre</i>-restoration of <i>Smn</i>, MUNE at P12 in mice with <i>ChAT-Cre Smn</i>-restoration (<i>P</i> = 0.042) and <i>Nestin-Cre</i> + <i>ChAT-Cre Smn</i>-restoration (<i>P</i> = 0.024) are increased. Similarly, compared with SMA mice with no <i>Cre</i>, MUNE in mice with <i>ChAT-Cre Smn</i>-restoration (<i>P</i> = 0.031) and <i>Nestin-Cre</i> + <i>ChAT-Cre Smn</i>-restoration (<i>P</i> = 0.017) are increased. (*<i>P</i> ≤ 0.05, ***<i>P</i> ≤ 0.001).</div> </figcaption> </figure> </div> <div class="see-all actions-bar"> <button class="show-more" aria-controls="slides-container" data-ga-category="figure" data-ga-action="show_all"> All figures (7) </button> </div>  <div class="pswp figures-dialog" id="figures-dialog" tabindex="-1" role="dialog" aria-hidden="true" data-image-gallery-uid="article-figures" aria-label="Figures Dialog">  <div class="pswp__bg"></div>  <div class="pswp__scroll-wrap">  <div class="pswp__container"> <div class="pswp__item"></div> <div class="pswp__item"></div> <div class="pswp__item"></div> </div>  <div class="pswp__ui pswp__ui--hidden"> <div class="pswp__top-bar">  <div class="pswp__counter"></div> <button class="pswp__button pswp__button--close" title="Close (Esc)"></button> <button class="pswp__button pswp__button--share" title="Share"></button> <button class="pswp__button pswp__button--fs" title="Toggle fullscreen"></button> <button class="pswp__button pswp__button--zoom" title="Zoom in/out"></button>   <div class="pswp__preloader"> <div class="pswp__preloader__icn"> <div class="pswp__preloader__cut"> <div class="pswp__preloader__donut"></div> </div> </div> </div> </div> <div class="pswp__share-modal pswp__share-modal--hidden pswp__single-tap"> <div class="pswp__share-tooltip"></div> </div> <button class="pswp__button pswp__button--arrow--left" title="Previous (arrow left)"> </button> <button class="pswp__button pswp__button--arrow--right" title="Next (arrow right)"> </button> <div class="pswp__caption"> <div class="pswp__caption__center"></div> </div> </div> </div> </div> <div class="figure-dialog-caption"> <div class="figure-caption-link-container"> <a class="figure-caption-link" href="#">See this image and copyright information in PMC</a> </div> <div class="figure-caption-center" data-expand-title="click to show full caption" data-collapse-title="click to hide full caption"> </div> <button class="figure-caption-toggle-btn" aria-label="show full caption" data-expand-text="show full caption" data-collapse-text="hide full caption">  </button> </div> </div> <div class="similar-articles" id="similar"> <h2 class="title"> Similar articles </h2> <ul class="articles-list" id="similar-articles-list"> <li class="full-docsum"> <div class="docsum-content" style="display:inline;"> <a class="docsum-title" href="/27907033/" ref="article_id=27907033&linksrc=similar_articles_link&ordinalpos=1" data-ga-category="similar_article" data-ga-action="27907033" data-ga-label=""> Normalization of Patient-Identified Plasma Biomarkers in SMNΔ7 Mice following Postnatal SMN Restoration. </a> <div class="docsum-citation full-citation"> <span class="docsum-authors full-authors">Arnold WD, Duque S, Iyer CC, Zaworski P, McGovern VL, Taylor SJ, von Herrmann KM, Kobayashi DT, Chen KS, Kolb SJ, Paushkin SV, Burghes AH.</span> <span class="docsum-authors short-authors">Arnold WD, et al.</span> <span class="docsum-journal-citation full-journal-citation">PLoS One. 2016 Dec 1;11(12):e0167077. doi: 10.1371/journal.pone.0167077. eCollection 2016.</span> <span class="docsum-journal-citation short-journal-citation">PLoS One. 2016.</span> <span class="citation-part">PMID: <span class="docsum-pmid">27907033</span></span> <span class="free-resources spaced-citation-item citation-part">Free PMC article.</span> </div> </div> </li> <li class="full-docsum"> <div class="docsum-content" style="display:inline;"> <a class="docsum-title" href="/26276812/" ref="article_id=26276812&linksrc=similar_articles_link&ordinalpos=2" data-ga-category="similar_article" data-ga-action="26276812" data-ga-label=""> Low levels of Survival Motor Neuron protein are sufficient for normal muscle function in the SMNΔ7 mouse model of SMA. </a> <div class="docsum-citation full-citation"> <span class="docsum-authors full-authors">Iyer CC, McGovern VL, Murray JD, Gombash SE, Zaworski PG, Foust KD, Janssen PM, Burghes AH.</span> <span class="docsum-authors short-authors">Iyer CC, et al.</span> <span class="docsum-journal-citation full-journal-citation">Hum Mol Genet. 2015 Nov 1;24(21):6160-73. doi: 10.1093/hmg/ddv332. 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Genet., 19, 63–66. - <a class="reference-link" href="/9590291/" ref="linksrc=references_link&ordinalpos=1" data-ga-category="reference" data-ga-action="9590291" > PubMed </a> </li> </ol> </li> </ol> <div class="actions-bar"> <button class="show-all" ref="linksrc=show_all_references_link" aria-controls="top-references-list-1" data-next-page-url="/26206889/references/" data-ga-category="reference" data-ga-action="show_more" > Show all 104 references </button> </div> </div> </div> </div> <div id="publication-types" class="publication-types keywords-section"> <h2 class="title"> Publication types </h2> <ul class="keywords-list"><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link" aria-label="Toggle dropdown menu for keyword Research Support, N.I.H., Extramural" tabindex="0" aria-controls="keyword-actions-publication-types-0" aria-expanded="false" data-pinger-ignore> Research Support, N.I.H., Extramural </button><div 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keyword Animals" tabindex="0" aria-controls="keyword-actions-mesh-terms-1" aria-expanded="false" data-pinger-ignore> Animals </button><div id="keyword-actions-mesh-terms-1" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword Animals"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Animals%22%5BMeSH%5D&sort=date&sort_order=desc" data-href="/?term=%22Animals%22%5BMeSH%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&mesh="Animals"[MeSH]" data-ga-category="search" data-ga-action="mesh_term" data-ga-label="Animals"> Search in PubMed </a></li><li><a class="search-in-mesh-link dropdown-block-link" ref="linksrc=search_in_mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh?term=Animals" data-ga-category="search_mesh" data-ga-action="mesh_term_link" data-ga-label="Animals"> Search in MeSH </a></li><li><a class="add-to-search-link dropdown-block-link" ref="linksrc=add_to_search_link" role="button" data-search-term=""Animals"[MeSH]" data-ga-category="search" data-ga-action="add_to_search" data-ga-label=""Animals"[MeSH]" href="#"> Add to Search </a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link" aria-label="Toggle dropdown menu for keyword Disease Models, Animal" tabindex="0" aria-controls="keyword-actions-mesh-terms-2" aria-expanded="false" data-pinger-ignore> Disease Models, Animal </button><div id="keyword-actions-mesh-terms-2" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword Disease Models, Animal"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Disease+Models%2C+Animal%22%5BMeSH%5D&sort=date&sort_order=desc" 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class="keyword-actions-trigger trigger keyword-link" aria-label="Toggle dropdown menu for keyword Muscular Atrophy, Spinal / genetics" tabindex="0" aria-controls="keyword-actions-mesh-terms-10" aria-expanded="false" data-pinger-ignore> Muscular Atrophy, Spinal / genetics </button><div id="keyword-actions-mesh-terms-10" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword Muscular Atrophy, Spinal / genetics"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Muscular+Atrophy%2C+Spinal%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc" data-href="/?term=%22Muscular+Atrophy%2C+Spinal%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&mesh="Muscular Atrophy, Spinal/genetics"[MeSH]" data-ga-category="search" data-ga-action="mesh_term" data-ga-label="Muscular Atrophy, Spinal / genetics"> 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SMN expression is required in motor neurons to rescue electrophysiological deficits in the SMNΔ7 mouse model of SMA - PubMed