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(PDF) Mitochondrial DNA-control region sequence variation in the NE Portuguese Jewish community

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window.loswp.shouldDetectTimezone = true; window.loswp.shouldShowBulkDownload = true; window.loswp.showSignupCaptcha = false window.loswp.willEdgeCache = false; window.loswp.work = {"work":{"id":115216645,"created_at":"2024-02-21T05:35:11.242-08:00","from_world_paper_id":250226455,"updated_at":"2024-11-24T06:53:56.035-08:00","_data":{"publisher":"Elsevier BV","grobid_abstract":"Migraine headache is a very common condition affecting about 10% of the population that results in substantial morbidity and economic loss. The two most common variants are migraine with (MA) and without (MO) aura. Often considered to be a migraine-like variant, cyclic vomiting syndrome (CVS) is a predominately childhood condition characterized by severe, discrete episodes of nausea, vomiting, and lethargy. Disease-associated mitochondrial DNA (mtDNA) sequence variants are suggested in common migraine and CVS based upon a strong bias towards the maternal inheritance of disease, and several other factors. Temporal temperature gradient gel electrophoresis (TTGE) followed by cyclosequencing and RFLP was used to screen almost 90% of the mtDNA, including the control region (CR), for heteroplasmy in 62 children with CVS and neuromuscular disease (CVSþ) and in 95 control subjects. One or two rare mtDNA-CR heteroplasmic sequence variants were found in six CVSþ and in zero control subjects (P ¼ 0.003). These variants comprised 6 point and 2 length variants in hypervariable regions 1 and 2 (HV1 and HV2, both part of the mtDNA-CR), one half of which were clustered in the nt 16040-16188 segment of HV1 that includes the termination associated sequence (TAS), a functional location important in the regulation of mtDNA replication. Based upon our findings, sequencing and statistical analysis looking for homoplasmic nucleotide changes was performed in HV1 among 30 CVSþ, 30 randomlyascertained CVS (rCVS), 18 MA, 32 MO, and 35 control haplogroup H cases. Within the nt 16040-16188 segment, homoplasmic sequence variants were threefold more common relative to control subjects in both CVS groups (P ¼ 0.01 combined data) and in MO (P ¼ 0.02), but not in MA (P ¼ 0.5 vs. control subjects and 0.02 vs. MO). No group differences were noted in the remainder of HV1. We conclude that sequence variation in this small ''peri-TAS'' segment is associated with CVS and MO, but not MA. These variants likely constitute risk factors for disease development. Our findings are consistent with previous data demonstrating progression of CVS into MO in many cases, and the co-segregation in a maternal inheritance pattern of CVS and MO within families. A mitochondrial component in the pathogenesis of migraine and CVS has therapeutic implications, especially concerning the avoidance of fasting.","publication_date":"2011,12,1","publication_name":"Forensic Science International: Genetics Supplement Series","grobid_abstract_attachment_id":"111688980"},"document_type":"paper","pre_hit_view_count_baseline":null,"quality":"high","language":"en","title":"Mitochondrial DNA-control region sequence variation in the NE Portuguese Jewish community","broadcastable":false,"draft":null,"has_indexable_attachment":true,"indexable":true}}["work"]; window.loswp.workCoauthors = [29600861]; window.loswp.locale = "en"; window.loswp.countryCode = "SG"; window.loswp.cwvAbTestBucket = ""; window.loswp.designVariant = "ds_vanilla"; window.loswp.fullPageMobileSutdModalVariant = "full_page_mobile_sutd_modal"; window.loswp.useOptimizedScribd4genScript = false; window.loginModal = {}; window.loginModal.appleClientId = 'edu.academia.applesignon'; window.userInChina = "false";</script><script defer="" src="https://accounts.google.com/gsi/client"></script><div class="ds-loswp-container"><div class="ds-work-card--grid-container"><div class="ds-work-card--container js-loswp-work-card"><div class="ds-work-card--cover"><div class="ds-work-cover--wrapper"><div class="ds-work-cover--container"><button class="ds-work-cover--clickable js-swp-download-button" data-signup-modal="{&quot;location&quot;:&quot;swp-splash-paper-cover&quot;,&quot;attachmentId&quot;:111688980,&quot;attachmentType&quot;:&quot;pdf&quot;}"><img alt="First page of “Mitochondrial DNA-control region sequence variation in the NE Portuguese Jewish community”" class="ds-work-cover--cover-thumbnail" src="https://0.academia-photos.com/attachment_thumbnails/111688980/mini_magick20240221-1-gn0pfi.png?1708522616" /><img alt="PDF Icon" class="ds-work-cover--file-icon" src="//a.academia-assets.com/images/single_work_splash/adobe_icon.svg" /><div class="ds-work-cover--hover-container"><span class="material-symbols-outlined" style="font-size: 20px" translate="no">download</span><p>Download Free PDF</p></div><div class="ds-work-cover--ribbon-container">Download Free PDF</div><div class="ds-work-cover--ribbon-triangle"></div></button></div></div></div><div class="ds-work-card--work-information"><h1 class="ds-work-card--work-title">Mitochondrial DNA-control region sequence variation in the NE Portuguese Jewish community</h1><div class="ds-work-card--work-authors ds-work-card--detail"><a class="ds-work-card--author js-wsj-grid-card-author ds2-5-body-md ds2-5-body-link" data-author-id="29600861" href="https://independent.academia.edu/InesNogueiro"><img alt="Profile image of Ines Nogueiro" class="ds-work-card--author-avatar" src="https://0.academia-photos.com/29600861/8498069/9496814/s65_ines.nogueiro.jpg_oh_5c48e1462720e47f9ca17b22c0fa60bc_oe_55dc98f0___gda___1437201509_85660c4968f09cef9fe774c07969602c" />Ines Nogueiro</a></div><div class="ds-work-card--detail"><p class="ds-work-card--detail ds2-5-body-sm">2011, Forensic Science International: Genetics Supplement Series</p><div class="ds-work-card--work-metadata"><div class="ds-work-card--work-metadata__stat"><span class="material-symbols-outlined" style="font-size: 20px" translate="no">visibility</span><p class="ds2-5-body-sm" id="work-metadata-view-count">…</p></div><div class="ds-work-card--work-metadata__stat"><span class="material-symbols-outlined" style="font-size: 20px" translate="no">description</span><p class="ds2-5-body-sm">9 pages</p></div><div class="ds-work-card--work-metadata__stat"><span class="material-symbols-outlined" style="font-size: 20px" translate="no">link</span><p class="ds2-5-body-sm">1 file</p></div></div><script>(async () => { const workId = 115216645; 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if (!viewCountBody) { throw new Error('Failed to find work views element'); } viewCountBody.textContent = `${commaizedViewCount} views`; } catch (error) { // Remove the whole views element if there was some issue parsing. document.getElementById('work-metadata-view-count')?.parentNode?.remove(); throw new Error(`Failed to parse view count: ${viewCount}`, error); } }; // If the DOM is still loading, wait for it to be ready before updating the view count. if (document.readyState === "loading") { document.addEventListener('DOMContentLoaded', () => { updateViewCount(viewCount); }); // Otherwise, just update it immediately. } else { updateViewCount(viewCount); } })();</script></div><p class="ds-work-card--work-abstract ds-work-card--detail ds2-5-body-md">Migraine headache is a very common condition affecting about 10% of the population that results in substantial morbidity and economic loss. The two most common variants are migraine with (MA) and without (MO) aura. Often considered to be a migraine-like variant, cyclic vomiting syndrome (CVS) is a predominately childhood condition characterized by severe, discrete episodes of nausea, vomiting, and lethargy. Disease-associated mitochondrial DNA (mtDNA) sequence variants are suggested in common migraine and CVS based upon a strong bias towards the maternal inheritance of disease, and several other factors. Temporal temperature gradient gel electrophoresis (TTGE) followed by cyclosequencing and RFLP was used to screen almost 90% of the mtDNA, including the control region (CR), for heteroplasmy in 62 children with CVS and neuromuscular disease (CVSþ) and in 95 control subjects. One or two rare mtDNA-CR heteroplasmic sequence variants were found in six CVSþ and in zero control subjects (P ¼ 0.003). These variants comprised 6 point and 2 length variants in hypervariable regions 1 and 2 (HV1 and HV2, both part of the mtDNA-CR), one half of which were clustered in the nt 16040-16188 segment of HV1 that includes the termination associated sequence (TAS), a functional location important in the regulation of mtDNA replication. Based upon our findings, sequencing and statistical analysis looking for homoplasmic nucleotide changes was performed in HV1 among 30 CVSþ, 30 randomlyascertained CVS (rCVS), 18 MA, 32 MO, and 35 control haplogroup H cases. Within the nt 16040-16188 segment, homoplasmic sequence variants were threefold more common relative to control subjects in both CVS groups (P ¼ 0.01 combined data) and in MO (P ¼ 0.02), but not in MA (P ¼ 0.5 vs. control subjects and 0.02 vs. MO). No group differences were noted in the remainder of HV1. We conclude that sequence variation in this small &#39;&#39;peri-TAS&#39;&#39; segment is associated with CVS and MO, but not MA. These variants likely constitute risk factors for disease development. Our findings are consistent with previous data demonstrating progression of CVS into MO in many cases, and the co-segregation in a maternal inheritance pattern of CVS and MO within families. A mitochondrial component in the pathogenesis of migraine and CVS has therapeutic implications, especially concerning the avoidance of fasting.</p><div class="ds-work-card--button-container"><button class="ds2-5-button js-swp-download-button" data-signup-modal="{&quot;location&quot;:&quot;continue-reading-button--work-card&quot;,&quot;attachmentId&quot;:111688980,&quot;attachmentType&quot;:&quot;pdf&quot;,&quot;workUrl&quot;:&quot;https://www.academia.edu/115216645/Mitochondrial_DNA_control_region_sequence_variation_in_the_NE_Portuguese_Jewish_community&quot;}">See full PDF</button><button class="ds2-5-button ds2-5-button--secondary js-swp-download-button" data-signup-modal="{&quot;location&quot;:&quot;download-pdf-button--work-card&quot;,&quot;attachmentId&quot;:111688980,&quot;attachmentType&quot;:&quot;pdf&quot;,&quot;workUrl&quot;:&quot;https://www.academia.edu/115216645/Mitochondrial_DNA_control_region_sequence_variation_in_the_NE_Portuguese_Jewish_community&quot;}"><span class="material-symbols-outlined" style="font-size: 20px" translate="no">download</span>Download PDF</button></div><div class="ds-signup-banner-trigger-container"><div class="ds-signup-banner-trigger ds-signup-banner-trigger-control"></div></div><div class="ds-signup-banner ds-signup-banner-control"><div id="ds-signup-banner-close-button"><button class="ds2-5-button ds2-5-button--secondary ds2-5-button--inverse"><span class="material-symbols-outlined" style="font-size: 20px" translate="no">close</span></button></div><div class="ds-signup-banner-ctas" data-impression-entity-id="115216645" data-impression-entity-type="2" data-impression-source="signup-banner"><img src="//a.academia-assets.com/images/academia-logo-capital-white.svg" /><h4 class="ds2-5-heading-serif-sm">Sign up for access to the world's latest research</h4><button class="ds2-5-button ds2-5-button--inverse ds2-5-button--full-width js-swp-download-button" data-signup-modal="{&quot;location&quot;:&quot;signup-banner&quot;}">Sign up for free<span class="material-symbols-outlined" style="font-size: 20px" translate="no">arrow_forward</span></button></div><div class="ds-signup-banner-divider"></div><div class="ds-signup-banner-reasons"><div class="ds-signup-banner-reasons-item"><span class="material-symbols-outlined" style="font-size: 24px" translate="no">check</span><span>Get notified about relevant papers</span></div><div class="ds-signup-banner-reasons-item"><span class="material-symbols-outlined" style="font-size: 24px" translate="no">check</span><span>Save papers to use in your research</span></div><div class="ds-signup-banner-reasons-item"><span class="material-symbols-outlined" style="font-size: 24px" translate="no">check</span><span>Join the discussion with peers</span></div><div class="ds-signup-banner-reasons-item"><span class="material-symbols-outlined" style="font-size: 24px" translate="no">check</span><span>Track your impact</span></div></div></div><script>(() => { // Set up signup banner show/hide behavior: // 1. 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The two most common variants are migraine with (MA) and without (MO) aura. Often considered to be a migraine-like variant, cyclic vomiting syndrome (CVS) is a predominately childhood condition characterized by severe, discrete episodes of nausea, vomiting, and lethargy. Disease-associated mitochondrial DNA (mtDNA) sequence variants are suggested in common migraine and CVS based upon a strong bias towards the maternal inheritance of disease, and several other factors. Temporal temperature gradient gel electrophoresis (TTGE) followed by cyclosequencing and RFLP was used to screen almost 90% of the mtDNA, including the control region (CR), for heteroplasmy in 62 children with CVS and neuromuscular disease (CVSþ) and in 95 control subjects. One or two rare mtDNA-CR heteroplasmic sequence variants were found in six CVSþ and in zero control subjects (P ¼ 0.003). These variants comprised 6 point and 2 length variants in hypervariable regions 1 and 2 (HV1 and HV2, both part of the mtDNA-CR), one half of which were clustered in the nt 16040-16188 segment of HV1 that includes the termination associated sequence (TAS), a functional location important in the regulation of mtDNA replication. Based upon our findings, sequencing and statistical analysis looking for homoplasmic nucleotide changes was performed in HV1 among 30 CVSþ, 30 randomlyascertained CVS (rCVS), 18 MA, 32 MO, and 35 control haplogroup H cases. Within the nt 16040-16188 segment, homoplasmic sequence variants were three-fold more common relative to control subjects in both CVS groups (P ¼ 0.01 combined data) and in MO (P ¼ 0.02), but not in MA (P ¼ 0.5 vs. control subjects and 0.02 vs. MO). No group differences were noted in the remainder of HV1. We conclude that sequence variation in this small &#39;&#39;peri-TAS&#39;&#39; segment is associated with CVS and MO, but not MA. These variants likely constitute risk factors for disease development. Our findings are consistent with previous data demonstrating progression of CVS into MO in many cases, and the co-segregation in a maternal inheritance pattern of CVS and MO within families. A mitochondrial component in the pathogenesis of migraine and CVS has therapeutic implications, especially concerning the avoidance of fasting.</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{&quot;location&quot;:&quot;wsj-grid-card-download-pdf-modal&quot;,&quot;work_title&quot;:&quot;Mitochondrial DNA control region sequence variation in migraine headache and cyclic vomiting syndrome&quot;,&quot;attachmentId&quot;:53554929,&quot;attachmentType&quot;:&quot;pdf&quot;,&quot;work_url&quot;:&quot;https://www.academia.edu/33519466/Mitochondrial_DNA_control_region_sequence_variation_in_migraine_headache_and_cyclic_vomiting_syndrome&quot;,&quot;alternativeTracking&quot;:true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/33519466/Mitochondrial_DNA_control_region_sequence_variation_in_migraine_headache_and_cyclic_vomiting_syndrome"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="1" data-entity-id="13105860" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/13105860/Assessing_the_Relative_Incidence_of_Mitochondrial_DNA_A3243G_in_Migraine_Without_Aura_With_Maternal_Inheritance">Assessing the Relative Incidence of Mitochondrial DNA A3243G in Migraine Without Aura With Maternal Inheritance</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="32356591" href="https://independent.academia.edu/GiancarloDiGennaro">Giancarlo Di Gennaro</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Headache: The Journal of Head and Face Pain, 2000</p><p class="ds-related-work--abstract ds2-5-body-sm">Objective.-To determine whether patients with migraine without aura with maternal &quot;inheritance&quot; are affected by a monosymptomatic form of the MELAS syndrome (mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes) or carry the most common mitochondrial DNA (mtDNA) mutation associated with MELAS, namely the A3243G transition in the transfer RNA (tRNA) Leu(UUR) gene.</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{&quot;location&quot;:&quot;wsj-grid-card-download-pdf-modal&quot;,&quot;work_title&quot;:&quot;Assessing the Relative Incidence of Mitochondrial DNA A3243G in Migraine Without Aura With Maternal Inheritance&quot;,&quot;attachmentId&quot;:45680079,&quot;attachmentType&quot;:&quot;pdf&quot;,&quot;work_url&quot;:&quot;https://www.academia.edu/13105860/Assessing_the_Relative_Incidence_of_Mitochondrial_DNA_A3243G_in_Migraine_Without_Aura_With_Maternal_Inheritance&quot;,&quot;alternativeTracking&quot;:true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/13105860/Assessing_the_Relative_Incidence_of_Mitochondrial_DNA_A3243G_in_Migraine_Without_Aura_With_Maternal_Inheritance"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="2" data-entity-id="80871829" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/80871829/Screening_of_the_A11084G_Polymorphism_and_Scanning_of_a_Mitochondrial_Genome_SNP_in_Korean_Migraineurs">Screening of the A11084G Polymorphism and Scanning of a Mitochondrial Genome SNP in Korean Migraineurs</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="47251281" href="https://independent.academia.edu/ByungKunKim">ByungKun Kim</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Journal of Clinical Neurology, 2007</p><p class="ds-related-work--abstract ds2-5-body-sm">Background and Purpose: Migraine is a genetically heterogeneous disorder that is frequently associated with a familial history, and mitochondrial dysfunction has been suggested to be associated with its pathogenesis. We screened and scanned mitochondrial gene polymorphisms to determine the significance of mitochondrial DNA mutations in Korean migraineurs. Methods: One hundred and sixty-four migraineurs aged 33.9±11.7 years (mean±SD range 12 to 65 years) were studied. Clinical data of the familial history were obtained, and blood samples were collected for DNA purification. An A-to-G substitution at mitochondrial DNA (mtDNA) position 11,084 (A11084G) was determined by a polymerase chain reaction (PCR) with BsmI restriction. In addition, new single-nucleotide polymorphism (SNP) sites in the mitochondrial genome were scanned for using PCR and direct sequencing. Results: Ninety-eight migraine patients (59.8%) had a maternal familial history. The A11084G polymorphism, which was previously reported in 25% of Japanese migraineurs, was not evident in our Korean migraine patients. However, scanning of new SNP sites in mtDNA revealed six candidate SNPs whose incidences were higher in migraine patients than in normal subjects. Conclusion: Our study found no association between the A11084G polymorphism in mitochondrial DNA and migraine in Koreans. However, we found potential new mitochondrial SNP sites in Korean migraineurs, which warrant further investigation.</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{&quot;location&quot;:&quot;wsj-grid-card-download-pdf-modal&quot;,&quot;work_title&quot;:&quot;Screening of the A11084G Polymorphism and Scanning of a Mitochondrial Genome SNP in Korean Migraineurs&quot;,&quot;attachmentId&quot;:87109399,&quot;attachmentType&quot;:&quot;pdf&quot;,&quot;work_url&quot;:&quot;https://www.academia.edu/80871829/Screening_of_the_A11084G_Polymorphism_and_Scanning_of_a_Mitochondrial_Genome_SNP_in_Korean_Migraineurs&quot;,&quot;alternativeTracking&quot;:true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/80871829/Screening_of_the_A11084G_Polymorphism_and_Scanning_of_a_Mitochondrial_Genome_SNP_in_Korean_Migraineurs"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="3" data-entity-id="84644693" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/84644693/A_Pilot_Mitochondrial_Genome_Wide_Association_on_Migraine_Among_Saudi_Arabians">A Pilot Mitochondrial Genome-Wide Association on Migraine Among Saudi Arabians</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="406809" href="https://iabfu.academia.edu/DrAbdulazeezsayed">Sayed Abdulazeez</a></div><p class="ds-related-work--metadata ds2-5-body-xs">International Journal of General Medicine</p><p class="ds-related-work--abstract ds2-5-body-sm">Background: Mitochondrial DNA (mtDNA) mutations have been reported in multiple neurological diseases and helped to explain the pathophysiology of these diseases. Similarly, variations in mtDNA might exist in migraine and can explain the effect of low ATP production in the neurons on the initiation of migraine attack. Therefore, in the current study we aim to explore the association of mtDNA mutations on migraine in the Saudi population. Subjects and Methods: Over 1950 young Saudi female students were screened for migraine, among that a total of 103 satisfied the ICHD-3 criteria. However, 20 migraine cases confirmed in the neurology clinic and gave consent to participate in the study. Another 20 age-matched healthy controls were also recruited. Mitochondrial sequence variations were filtered from exome sequencing using NCBI GenBank Reference Sequence: NC_012920.1 and analysed using MITOMAP. Genes with significant single nucleotide polymorphisms (SNPs) were investigated by the gene functional classification tool DAVID and functional enrichment analysis of protein-protein interaction networks through STRING 11.5 for the most significant associated genes. Results: Genome wide analysis of the mitochondrial sequence variations between the patients with migraine and control revealed the association of 30 SNPs (p &lt; 0.05) in the mitochondrial genome. The highest significance (p = 0.001033) was observed in a coding SNP (rs1603225278) in the CYTB gene and rs386829281 in the region of origin of replication. Twenty-four significant SNPs were in the coding region of nine (ND5, ND4, COX2, COX1, ND3, CYTB, COX3, ND2 and ND1) genes. Conclusion: This is the first study to demonstrate the association of mtDNA variations with migraine in the Saudi population. The current findings will help to highlight the significance of mtDNA mutations to migraine pathophysiology and will serve as a reference data for larger national and international studies.</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{&quot;location&quot;:&quot;wsj-grid-card-download-pdf-modal&quot;,&quot;work_title&quot;:&quot;A Pilot Mitochondrial Genome-Wide Association on Migraine Among Saudi Arabians&quot;,&quot;attachmentId&quot;:89595072,&quot;attachmentType&quot;:&quot;pdf&quot;,&quot;work_url&quot;:&quot;https://www.academia.edu/84644693/A_Pilot_Mitochondrial_Genome_Wide_Association_on_Migraine_Among_Saudi_Arabians&quot;,&quot;alternativeTracking&quot;:true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/84644693/A_Pilot_Mitochondrial_Genome_Wide_Association_on_Migraine_Among_Saudi_Arabians"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="4" data-entity-id="103850485" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/103850485/Study_of_Mitochondrial_DNA_Mutations_in_Patients_With_Migraine_With_Prolonged_Aura">Study of Mitochondrial DNA Mutations in Patients With Migraine With Prolonged Aura</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="256373333" href="https://independent.academia.edu/DavidOtaegui">David Otaegui</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Headache: The Journal of Head and Face Pain, 2004</p><p class="ds-related-work--abstract ds2-5-body-sm">Ten patients with migraine with prolonged aura were studied for the presence of mitochondrial DNA point mutations utilizing DNA isolated from blood and hair samples. We analyzed for nine point mutations reported in patients with MELAS (A3243G, C3256T, T3271C, T3291C, A5814G, T8356C, T9957C, G13513A, and A13514G) and three secondary LHON mutations (T4216C, A4917G, and G13708A). None of the patients tested had any of these mutations in mitochondrial DNA. However, one patient was found to have a tRNA(Gln) A4336G mitochondrial DNA variant. From this study it appears that migraine with prolonged aura is not an oligosymptomatic form of MELAS and is not related to secondary LHON mutations. The significance of the tRNA A4336G variant is unknown.</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{&quot;location&quot;:&quot;wsj-grid-card-download-pdf-modal&quot;,&quot;work_title&quot;:&quot;Study of Mitochondrial DNA Mutations in Patients With Migraine With Prolonged Aura&quot;,&quot;attachmentId&quot;:103741685,&quot;attachmentType&quot;:&quot;pdf&quot;,&quot;work_url&quot;:&quot;https://www.academia.edu/103850485/Study_of_Mitochondrial_DNA_Mutations_in_Patients_With_Migraine_With_Prolonged_Aura&quot;,&quot;alternativeTracking&quot;:true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/103850485/Study_of_Mitochondrial_DNA_Mutations_in_Patients_With_Migraine_With_Prolonged_Aura"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="5" data-entity-id="2380370" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/2380370/Two_Common_Mitochondrial_DNA_Polymorphisms_are_Highly_Associated_with_Migraine_Headache_and_Cyclic_Vomiting_Syndrome">Two Common Mitochondrial DNA Polymorphisms are Highly Associated with Migraine Headache and Cyclic Vomiting Syndrome</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="3070540" href="https://usc.academia.edu/EssamZaki">Essam Zaki</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Phytochemistry, 1990</p><p class="ds-related-work--abstract ds2-5-body-sm">Three hydroxycinnamic acid amides were isolated from the herb of Iochroma cyaneum and identified by means of spectral data and hydrolysis as caffeoylputrescine (paucine), feruloylputrescine (subaphylline) and the new N1,N10-di-dihydrocaffeoylspermidine.</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{&quot;location&quot;:&quot;wsj-grid-card-download-pdf-modal&quot;,&quot;work_title&quot;:&quot;Two Common Mitochondrial DNA Polymorphisms are Highly Associated with Migraine Headache and Cyclic Vomiting Syndrome&quot;,&quot;attachmentId&quot;:30546069,&quot;attachmentType&quot;:&quot;pdf&quot;,&quot;work_url&quot;:&quot;https://www.academia.edu/2380370/Two_Common_Mitochondrial_DNA_Polymorphisms_are_Highly_Associated_with_Migraine_Headache_and_Cyclic_Vomiting_Syndrome&quot;,&quot;alternativeTracking&quot;:true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/2380370/Two_Common_Mitochondrial_DNA_Polymorphisms_are_Highly_Associated_with_Migraine_Headache_and_Cyclic_Vomiting_Syndrome"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="6" data-entity-id="77496492" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/77496492/Mitochondrial_genome_wide_association_study_of_migraine_the_HUNT_Study">Mitochondrial genome-wide association study of migraine – the HUNT Study</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="181452093" href="https://independent.academia.edu/Michaelkerry3">Michael kerry</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Cephalalgia, 2020</p><p class="ds-related-work--abstract ds2-5-body-sm">Background Variation in mitochondrial DNA (mtDNA) has been indicated in migraine pathogenesis, but genetic studies to date have focused on candidate variants, with sparse findings. We aimed to perform the first mitochondrial genome-wide association study of migraine, examining both single variants and mitochondrial haplogroups. Methods In total, 71,860 participants from the population-based Nord-Trøndelag Health Study were genotyped. We excluded samples not passing quality control for nuclear genotypes, in addition to samples with low call rate and closely maternally related. We analysed 775 mitochondrial DNA variants in 4021 migraine cases and 14,288 headache-free controls, using logistic regression. In addition, we analysed 3831 cases and 13,584 controls who could be reliably assigned to a mitochondrial haplogroup. Lastly, we attempted to replicate previously reported mitochondrial DNA candidate variants. Results Neither of the mitochondrial variants or haplogroups were associated...</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{&quot;location&quot;:&quot;wsj-grid-card-download-pdf-modal&quot;,&quot;work_title&quot;:&quot;Mitochondrial genome-wide association study of migraine – the HUNT Study&quot;,&quot;attachmentId&quot;:84816306,&quot;attachmentType&quot;:&quot;pdf&quot;,&quot;work_url&quot;:&quot;https://www.academia.edu/77496492/Mitochondrial_genome_wide_association_study_of_migraine_the_HUNT_Study&quot;,&quot;alternativeTracking&quot;:true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/77496492/Mitochondrial_genome_wide_association_study_of_migraine_the_HUNT_Study"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="7" data-entity-id="2530854" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/2530854/Are_pediatric_and_adult_onset_cyclic_vomiting_syndrome_CVS_biologically_different_conditions_Relationship_of_adult_onset_CVS_with_the_migraine_and_pediatric_CVS_associated_common_mtDNA_polymorphisms_16519T_and_3010A">Are pediatric and adult-onset cyclic vomiting syndrome (CVS) biologically different conditions? Relationship of adult-onset CVS with the migraine and pediatric CVS-associated common mtDNA polymorphisms 16519T and 3010A</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="3070540" href="https://usc.academia.edu/EssamZaki">Essam Zaki</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Neurogastroenterology and motility : the official journal of the European Gastrointestinal Motility Society, 2009</p><p class="ds-related-work--abstract ds2-5-body-sm">Pediatric cyclic vomiting syndrome (CVS) is associated with a high prevalence of co-morbid migraine and other functional disorders, and with two adult migraine-associated mitochondrial DNA (mtDNA) polymorphisms: 16519T and 3010A. These potential associations have not been studied in adult CVS. The objective of this study is to determine the prevalence of 16519T and 3010A mtDNA polymorphisms and other functional disorders in adult CVS patients. Adults with CVS recruited from the University of Kansas meeting Rome III criteria and a population control group completed a self-reported survey that included questions relating to the diagnostic criteria for several functional disorders. DNA was isolated from blood or saliva and genotyping was performed by standard methodologies. Adult CVS subjects, compared to controls, had significantly more symptoms consistent with several other functional disorders. 16519T was present in 22/31 cases (71%) of child-onset (&lt;12 years) and 9/31 (29%) cases of adultonset (18+ years) CVS (P = 0.01), vs 27% of controls. Among subjects with 16519T, 3010A was present in 30% of child-onset vs 0% of adult-onset CVS (P = 0.05) and 2% of controls. The conclusions drawn were: (i) unlike pediatric CVS, adult CVS is not associated with the 16519T and 3010A mtDNA polymorphisms, suggesting a degree of genetic distinction and (ii) similar to the pediatric setting, adult CVS is associated with a substantial burden of co-morbid functional disorders.</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{&quot;location&quot;:&quot;wsj-grid-card-download-pdf-modal&quot;,&quot;work_title&quot;:&quot;Are pediatric and adult-onset cyclic vomiting syndrome (CVS) biologically different conditions? Relationship of adult-onset CVS with the migraine and pediatric CVS-associated common mtDNA polymorphisms 16519T and 3010A&quot;,&quot;attachmentId&quot;:30546204,&quot;attachmentType&quot;:&quot;pdf&quot;,&quot;work_url&quot;:&quot;https://www.academia.edu/2530854/Are_pediatric_and_adult_onset_cyclic_vomiting_syndrome_CVS_biologically_different_conditions_Relationship_of_adult_onset_CVS_with_the_migraine_and_pediatric_CVS_associated_common_mtDNA_polymorphisms_16519T_and_3010A&quot;,&quot;alternativeTracking&quot;:true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/2530854/Are_pediatric_and_adult_onset_cyclic_vomiting_syndrome_CVS_biologically_different_conditions_Relationship_of_adult_onset_CVS_with_the_migraine_and_pediatric_CVS_associated_common_mtDNA_polymorphisms_16519T_and_3010A"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="8" data-entity-id="100291731" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/100291731/Gene_centric_analysis_implicates_nuclear_encoded_mitochondrial_protein_gene_variants_in_migraine_susceptibility">Gene-centric analysis implicates nuclear encoded mitochondrial protein gene variants in migraine susceptibility</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="32535419" href="https://afgsaa.academia.edu/LynGriffiths">Lyn Griffiths</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Molecular genetics &amp; genomic medicine, 2017</p><p class="ds-related-work--abstract ds2-5-body-sm">Migraine is a common neurological disorder which affects a large proportion of the population. The Norfolk Island population is a genetically isolated population and is an ideal discovery cohort for genetic variants involved in complex disease susceptibility given the reduced genetic and environmental heterogeneity. Given that the majority of proteins responsible for mitochondrial function are nuclear encoded, this study aimed to investigate the role of Nuclear Encoded Mitochondrial Protein (NEMP) genes in relation to migraine susceptibility. A gene-centric association analysis of NEMP genes was undertaken in the most related individuals (n = 315) within the genetically isolated Norfolk Island population. The discovery phase included genes with three or more SNP associations (P &amp;lt; 0.005), which were investigated further in a replication phase using an unrelated migraine case-control cohort (544 patients and 584 controls). The discovery phase of the study implicated SNPs in 5 NEMP ...</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{&quot;location&quot;:&quot;wsj-grid-card-download-pdf-modal&quot;,&quot;work_title&quot;:&quot;Gene-centric analysis implicates nuclear encoded mitochondrial protein gene variants in migraine susceptibility&quot;,&quot;attachmentId&quot;:101155650,&quot;attachmentType&quot;:&quot;pdf&quot;,&quot;work_url&quot;:&quot;https://www.academia.edu/100291731/Gene_centric_analysis_implicates_nuclear_encoded_mitochondrial_protein_gene_variants_in_migraine_susceptibility&quot;,&quot;alternativeTracking&quot;:true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/100291731/Gene_centric_analysis_implicates_nuclear_encoded_mitochondrial_protein_gene_variants_in_migraine_susceptibility"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="9" data-entity-id="8985463" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/8985463/Quantitative_pedigree_analysis_and_mitochondrial_DNA_sequence_variants_in_adults_with_cyclic_vomiting_syndrome">Quantitative pedigree analysis and mitochondrial DNA sequence variants in adults with cyclic vomiting syndrome</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="3070540" href="https://usc.academia.edu/EssamZaki">Essam Zaki</a></div><p class="ds-related-work--abstract ds2-5-body-sm">Abstract Background Children with cyclic vomiting syndrome (CVS) have a high degree of maternal inheritance of functional gastrointestinal and neurological disorders. CVS in children is also associated with an increased prevalence of mitochondrial DNA single-nucleotide polymorphisms (mtDNA SNPs) 16519 T and 3010A. Preliminary data suggests that age of onset of symptoms (pediatric vs. adult) may be a determinant of the presence of such mtDNA SNP’s. We sought to examine the degree of maternal inheritance pattern of functional disorders and the prevalence of mtDNA SNP’s16519T and 3010A in adults with CVS and correlate this with age of onset of disease. Methods A Quantitative Pedigree Analysis (QPA) was performed in 195 of a total of 216 patients and all were genotyped using Restriction Fragment Length Polymorphism (RFLP) or sequencing. Results Adults with CVS had a higher degree of probable maternal inheritance (PMI) of functional disorders than controls (12% vs. 1%, p &lt; 0.001). However, the prevalence of mitochondrial SNP’s 16519 T, 3010A and the AT genotype were similar in Haplogroup H CVS patients compared to historical controls. There was no correlation between age of onset of disease and prevalence of these mtDNA SNP’s. Conclusions A subset of adults with CVS has a significantly higher degree of maternal inheritance pattern of functional disorders than controls. There was no association with mtDNA SNP’s 16519 T and 3010A as seen in children and future studies sequencing the entire mitochondrial and nuclear genome to identify potential causes for this maternal inheritance pattern in adults are warranted.</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{&quot;location&quot;:&quot;wsj-grid-card-download-pdf-modal&quot;,&quot;work_title&quot;:&quot;Quantitative pedigree analysis and mitochondrial DNA sequence variants in adults with cyclic vomiting syndrome&quot;,&quot;attachmentId&quot;:35299116,&quot;attachmentType&quot;:&quot;pdf&quot;,&quot;work_url&quot;:&quot;https://www.academia.edu/8985463/Quantitative_pedigree_analysis_and_mitochondrial_DNA_sequence_variants_in_adults_with_cyclic_vomiting_syndrome&quot;,&quot;alternativeTracking&quot;:true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/8985463/Quantitative_pedigree_analysis_and_mitochondrial_DNA_sequence_variants_in_adults_with_cyclic_vomiting_syndrome"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div></div></div><div class="ds-sticky-ctas--wrapper js-loswp-sticky-ctas hidden"><div class="ds-sticky-ctas--grid-container"><div class="ds-sticky-ctas--container"><button class="ds2-5-button js-swp-download-button" data-signup-modal="{&quot;location&quot;:&quot;continue-reading-button--sticky-ctas&quot;,&quot;attachmentId&quot;:111688980,&quot;attachmentType&quot;:&quot;pdf&quot;,&quot;workUrl&quot;:null}">See full PDF</button><button class="ds2-5-button ds2-5-button--secondary js-swp-download-button" data-signup-modal="{&quot;location&quot;:&quot;download-pdf-button--sticky-ctas&quot;,&quot;attachmentId&quot;:111688980,&quot;attachmentType&quot;:&quot;pdf&quot;,&quot;workUrl&quot;:null}"><span class="material-symbols-outlined" style="font-size: 20px" translate="no">download</span>Download PDF</button></div></div></div><div class="ds-below-fold--grid-container"><div class="ds-work--container js-loswp-embedded-document"><div class="attachment_preview" data-attachment="Attachment_111688980" style="display: none"><div class="js-scribd-document-container"><div class="scribd--document-loading js-scribd-document-loader" style="display: block;"><img alt="Loading..." src="//a.academia-assets.com/images/loaders/paper-load.gif" /><p>Loading Preview</p></div></div><div style="text-align: center;"><div class="scribd--no-preview-alert js-preview-unavailable"><p>Sorry, preview is currently unavailable. You can download the paper by clicking the button above.</p></div></div></div></div><div class="ds-sidebar--container js-work-sidebar"><div class="ds-related-content--container"><h2 class="ds-related-content--heading">Related papers</h2><div class="ds-related-work--container js-related-work-sidebar-card" data-collection-position="0" data-entity-id="127754849" data-sort-order="default"><a class="ds-related-work--title js-related-work-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/127754849/Migraine_with_Dysautonomia_Related_to_Mitochondrial_Polymorphisms_and_Adrenergic_Alpha_Receptors">Migraine with Dysautonomia Related to Mitochondrial Polymorphisms and Adrenergic Alpha Receptors</a><div class="ds-related-work--metadata"><a class="js-related-work-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="334976169" href="https://uaslp.academia.edu/IldefonsoRodr%C3%ADguez">Ildefonso Rodriguez-Leyva</a></div><p class="ds-related-work--metadata 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href="https://www.academia.edu/127754849/Migraine_with_Dysautonomia_Related_to_Mitochondrial_Polymorphisms_and_Adrenergic_Alpha_Receptors"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-related-work-sidebar-card" data-collection-position="1" data-entity-id="114156453" data-sort-order="default"><a class="ds-related-work--title js-related-work-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/114156453/Prevalence_of_Headache_in_Patients_With_Mitochondrial_Disease_A_Cross_Sectional_Study">Prevalence of Headache in Patients With Mitochondrial Disease: A Cross-Sectional Study</a><div class="ds-related-work--metadata"><a class="js-related-work-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="33066214" href="https://independent.academia.edu/CGaul">Charly Gaul</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Headache, 2017</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{&quot;location&quot;:&quot;wsj-grid-card-download-pdf-modal&quot;,&quot;work_title&quot;:&quot;Prevalence of Headache in Patients With Mitochondrial Disease: A Cross-Sectional Study&quot;,&quot;attachmentId&quot;:110928359,&quot;attachmentType&quot;:&quot;pdf&quot;,&quot;work_url&quot;:&quot;https://www.academia.edu/114156453/Prevalence_of_Headache_in_Patients_With_Mitochondrial_Disease_A_Cross_Sectional_Study&quot;,&quot;alternativeTracking&quot;:true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-related-work-grid-card-view-pdf" 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