New advances in understanding and treating intellectual disorder -- ScienceDaily

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organizations</div> </div> <div class="clearfix"></div> <hr class="head-rule no-print"/> <h1 id="headline" class="headline">New advances in understanding and treating intellectual disorder</h1> <dl class="dl-horizontal dl-custom"> <dt>Date:</dt> <dd id="date_posted">May 23, 2018</dd> <dt>Source:</dt> <dd id="source">Tohoku University</dd> <dt>Summary:</dt> <dd id="abstract">Researchers have investigated an intellectual disorder (ATR-X) syndrome to reveal its cause, mechanism and a potential therapeutic strategy to decrease associated cognitive impairment. </dd> <dt class="no-print">Share:</dt> <dd class="no-print"> <div id="share_top"> <div data-url="https://web.archive.org/web/20180524062437oe_/https://www.sciencedaily.com/releases/2018/05/180523104258.htm" class="ssk-sm ssk-group"> <a class="ssk ssk-icon ssk-facebook"></a> <a class="ssk ssk-icon ssk-twitter"></a> <a class="ssk ssk-icon ssk-google-plus"></a> <a class="ssk ssk-icon ssk-pinterest"></a> <a class="ssk ssk-icon ssk-linkedin"></a> <a class="ssk ssk-icon ssk-email"></a> </div> </div> </dd> </dl> <div class="row"> <div class="col-md-8 col-md-push-4"> <div class="fullstory">FULL STORY</div> <hr class="hr-fullstory"/>  <div class="clearfix"></div> <div id="story_text" class="hyphenate less-top-margin"> <p id="first" class="lead">Researchers at Tohoku University in Japan have investigated an intellectual disorder (ATR-X) syndrome to reveal its cause, mechanism and a potential therapeutic strategy to decrease associated cognitive impairment.</p> <div class="mobile-top-rectangle hidden-md hidden-lg"> <div class="textrule"> <span>advertisement</span> </div>  <div id="adslot-mobile-top-rectangle"> <script type="text/javascript"> googletag.cmd.push(function() { deployads.push(function() { deployads.gpt.display("adslot-mobile-top-rectangle") }); }); </script> </div> <hr class="hrrule"/> </div> <div id="text"> <p>"Disease related neurodevelopmental disorders are rare and there is still a lack of therapy to treat the various syndromes," said Professor Kohji Fukunaga at the Graduate School of Pharmaceutical Studies, who led the study.</p> <p>Alpha-thalassemia X-linked intellectual disability (ATR-X) syndrome is a severe intellectual disability caused by ATRX gene mutations. The researchers found that treatment with 5-aminolevulinic acid (5-ALA), which is converted into G-quadruplex-binding metabolites, rescues decreased synaptic plasticity and cognitive deficits seen in ATR-X model mice.</p> <p>The findings suggest a potential therapeutic strategy to target G-quadruplexes and decrease cognitive impairment associated with ATR-X syndrome.</p> <p>Among candidate ligands, 5-ALA has been applied clinically with minimal risk and approved for use following intracranial tumor resection in Europe, Canada, and Japan, where it has been used as a photosensitizer in photodynamic diagnostics applied in neurosurgery. These clinical applications potentially reduce the required approval time and cost of clinical trials, as pre-existing absorption, distribution, metabolism, excretion (ADME) and toxicity data are readily available.</p> <p>The risk of failure is reduced as data relevant to 5-ALA safety and pharmacology is also available. The G-quadruplexes are involved in the pathology of other diseases and this discovery is expected to contribute to the possibility of new drug targets.</p> <p>"5-aminolevulic acid is proven to be safe and is already used in supplements in Japan, so we are ready to begin clinical trials," says Fukunaga. "There is also evidence that it may improve autism spectrum disorders which is a common disease in Japanese children."</p> </div> <div class="mobile-middle-rectangle hidden-md hidden-lg"> <div class="textrule"> <span>advertisement</span> </div>  <div id="adslot-mobile-middle-rectangle"> <script type="text/javascript"> googletag.cmd.push(function() { deployads.push(function() { deployads.gpt.display("adslot-mobile-middle-rectangle") }); }); </script> </div> <hr class="hrrule"/> </div> <hr class="hidden-sm hidden-xs"/> <div id="story_source"> <p><strong>Story Source:</strong></p> <p><a href="https://web.archive.org/web/20180524062437/https://www.tohoku.ac.jp/en/press/treating_intellectual_disorder.html" rel="nofollow" target="_blank">Materials</a> provided by <a href="https://web.archive.org/web/20180524062437/http://www.tohoku.ac.jp/en/" rel="nofollow" target="_blank"><strong>Tohoku University</strong></a>. <em>Note: Content may be edited for style and length.</em></p> </div>  <hr/> <div id="journal_references"><p><strong>Journal Reference</strong>:</p> <ol class="journal"> <li>Norifumi Shioda, Yasushi Yabuki, Kouya Yamaguchi, Misaki Onozato, Yue Li, Kenji Kurosawa, Hideyuki Tanabe, Nobuhiko Okamoto, Takumi Era, Hiroshi Sugiyama, Takahito Wada, Kohji Fukunaga. <strong>Targeting G-quadruplex DNA as cognitive function therapy for ATR-X syndrome</strong>. <em>Nature Medicine</em>, 2018; DOI: <a href="https://web.archive.org/web/20180524062437/http://dx.doi.org/10.1038/s41591-018-0018-6" rel="nofollow" target="_blank">10.1038/s41591-018-0018-6</a> </li> </ol> <hr/> </div>  <div id="citations"> <div role="tabpanel" class="right-tabs clearfix"> <p class="pull-left"><strong>Cite This Page</strong>:</p>  <ul class="nav nav-tabs" role="tablist"> <li role="presentation" class="active"><a href="#citation_mla" aria-controls="citation_mla" role="tab" data-toggle="tab">MLA</a></li> <li role="presentation"><a href="#citation_apa" aria-controls="citation_apa" role="tab" data-toggle="tab">APA</a></li> <li role="presentation"><a href="#citation_chicago" aria-controls="citation_chicago" role="tab" data-toggle="tab">Chicago</a></li> </ul> <div class="tab-content tab-citations"> <div role="tabpanel" class="tab-pane active" id="citation_mla">Tohoku University. 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New advances in understanding and treating intellectual disorder -- ScienceDaily