https://m2.mtmt.hu/ hun 2026-09-20 19:57 JournalArticle 31957574 VALIDATED true Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, H-1082, Hungary PentaCore Laboratory Budapest, Budapest, H-1094, Hungary Department of Measurement and Information Systems, Budapest University of Technology and Economics, Budapest, H-1117, Hungary Cited By :3 Export Date: 26 July 2023 Correspondence Address: Molnar, M.J.; Institute of Genomic Medicine and Rare Disorders, Hungary; email: molnar.mariajudit@med.semmelweis-univ.hu 0 false 2026-09-07T10:06:28.228+0000 2026-06-17T10:34:10.559+0000 2021-04-09T07:21:48.668+0000 true 10015544 Csajbók Edit /api/admin/10015544 Admin true 10015544 2026-09-07T10:05:18.847+0000 2022-08-01T17:44:16.690+0000 true 10015544 Csajbók Edit /api/admin/10015544 Admin true 10015544 true false true 24 24 /api/publicationtype/24 PublicationType 1 true 24 JournalArticle true 10000059 Article true 24 24 /api/publicationtype/24 PublicationType 1 true 24 JournalArticle /api/subtype/10000059 Szakcikk SubType 101 true 10000059 true 1 /api/category/1 Category true 1 Csaban, Dora The Role of the Rare Variants in the Genes Encoding the Alpha-Ketoglutarate Dehydrogenase in Alzheimer’s Disease true true /api/journal/10024487 REVIEWED true false 10024487 false 10024487 true 2075-1729 Journal FOREIGN 11 4 321 321 9 2021 There is increasing evidence that several mitochondrial abnormalities are present in the brains of patients with Alzheimer's disease (AD). Decreased alpha-ketoglutarate dehydrogenase complex (alpha KGDHc) activity was identified in some patients with AD. The alpha KGDHc is a key enzyme in the Krebs cycle. This enzyme is very sensitive to the harmful effect of reactive oxygen species, which gives them a critical role in the Alzheimer and mitochondrial disease research area. Previously, several genetic risk factors were described in association with AD. Our aim was to analyze the associations of rare damaging variants in the genes encoding alpha KGDHc subunits and AD. The three genes (OGDH, DLST, DLD) encoding alpha KGDHc subunits were sequenced from different brain regions of 11 patients with histologically confirmed AD and the blood of further 35 AD patients. As a control group, we screened 134 persons with whole-exome sequencing. In all subunits, a one-one rare variant was identified with unknown significance based on American College of Medical Genetics and Genomics (ACMG) classification. Based on the literature research and our experience, R263H mutation in the DLD gene seems likely to be pathogenic. In the different cerebral areas, the alpha KGDHc mutational profile was the same, indicating the presence of germline variants. We hypothesize that the heterozygous missense R263H in the DLD gene may have a role in AD as a mild genetic risk factor. 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19667737 /api/reference/19667737 46 10.1007/s10545-010-9169-4 false true Reference 19667738 /api/reference/19667738 47 10.1002/humu.9319 false true Reference 19667739 /api/reference/19667739 48 10.1007/s11064-006-9235-3 false true Reference 19667740 /api/reference/19667740 49 10.1111/j.1471-4159.1993.tb07436.x false true /api/publication/31957574 <div class="JournalArticle Publication long-list"> <div class="authors"> <img title="Forrásközlemény" style="float: left" src="/frontend/resources/grid/publication-core-icon.png"> <img title="Idézőközlemény" style="float: left" src="/frontend/resources/grid/publication-citation-icon.png"> <div class="autype autype0"> <span class="author-name" mtid="10059951"><a href="/gui2/?type=authors&mode=browse&sel=10059951" target="_blank">Csaban Dora (<span class="authorship-author-name">Csabán Dóra</span> <span class="authorAux-mtmt"> biomérnök</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/Genomikai Medicina és Ritka Betegségek Intézete</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10032402"><a href="/gui2/?type=authors&mode=browse&sel=10032402" target="_blank">Pentelenyi Klara (<span class="authorship-author-name">Pentelényi Klára</span> <span class="authorAux-mtmt"> molekuláris biológia, genetika</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/Genomikai Medicina és Ritka Betegségek Intézete</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10046056"><a href="/gui2/?type=authors&mode=browse&sel=10046056" target="_blank">Toth-Bencsik Renata (<span class="authorship-author-name">Tóth-Bencsik Renáta</span> <span class="authorAux-mtmt"> Molekuláris biológia, genetika</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/Genomikai Medicina és Ritka Betegségek Intézete</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10048349"><a href="/gui2/?type=authors&mode=browse&sel=10048349" target="_blank">Illes Anett (<span class="authorship-author-name">Illés Anett</span> <span class="authorAux-mtmt"> Molekuláris biológia, Genetika</span>) </a> </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10040725"><a href="/gui2/?type=authors&mode=browse&sel=10040725" target="_blank">Grosz Zoltan (<span class="authorship-author-name">Grosz Zoltán</span> <span class="authorAux-mtmt"> Neurológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/Genomikai Medicina és Ritka Betegségek Intézete</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10028549"><a href="/gui2/?type=authors&mode=browse&sel=10028549" target="_blank">Gezsi Andras (<span class="authorship-author-name">Gézsi András</span> <span class="authorAux-mtmt"> bioinformatika</span>) </a> </span> <span class="author-affil"><span title="Budapesti Műszaki és Gazdaságtudományi Egyetem">BME</span>/<span title="Villamosmérnöki és Informatikai Kar">VIK</span>/Méréstechnika és Információs Rendszerek Tanszék</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10002781"><a href="/gui2/?type=authors&mode=browse&sel=10002781" target="_blank">Molnar Maria Judit ✉ (<span class="authorship-author-name">Molnár Mária Judit</span> <span class="authorAux-mtmt"> Neurológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/Genomikai Medicina és Ritka Betegségek Intézete</span> </div> </div> <div class="title"><a href="/gui2/?mode=browse&params=publication;31957574" target="_blank">The Role of the Rare Variants in the Genes Encoding the Alpha-Ketoglutarate Dehydrogenase in Alzheimer’s Disease</a></div> <div> <span class="journal-title">LIFE-BASEL</span> <span class="journal-issn">( <a target="_blank" href="https://portal.issn.org/resource/ISSN/2075-1729">2075-1729</a>)</span>: <span class="journal-volume">11</span> <span class="journal-issue">4</span> <span class="page"> Paper 321. 9 p. </span> <span class="year">(2021)</span> </div> <div class="pub-footer"> <span class="language" xmlns="http://www.w3.org/1999/html">Nyelv: Angol | </span> <span class="identifiers"> <span class="id identifier oa_GOLD" title=" Gold "> <a style="color:blue" title="10.3390/life11040321" target="_blank" href="https://doi.org/10.3390/life11040321"> DOI </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="000643197500001" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/000643197500001"> WoS </a> </span> <span class="id identifier oa_GOLD" title=" Gold "> <a style="color:black" title="130563" target="_blank" href="https://real.mtak.hu/130563"> REAL </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="85104540370" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85104540370"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="33917565" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=33917565&dopt=Abstract"> PubMed </a> </span> <span class="id identifier oa_NONE" title=" Nincs "> <a style="color:blue" title="https://www.scopus.com/pages/publications/85104540370?origin=resultslist" target="_blank" href="https://www.scopus.com/pages/publications/85104540370?origin=resultslist"> Egyéb URL </a> </span> </span> <OnlyViewableByAuthor><div class="ratings"> <div class="journal-subject">Folyóirat szakterülete: Scopus - Biochemistry, Genetics and Molecular Biology (miscellaneous)&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;Q2</div> <div class="journal-subject">Folyóirat szakterülete: Scopus - Ecology, Evolution, Behavior and Systematics&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;Q2</div> <div class="journal-subject">Folyóirat szakterülete: Scopus - Paleontology&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;Q2</div> <div class="journal-subject">Folyóirat szakterülete: Scopus - Space and Planetary Science&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;Q3</div> </div></OnlyViewableByAuthor> <div class="publication-citation" style="margin-left: 0.5cm;"> <span title="Nyilvános idézőközlemények összesen, említések nélkül" class="citingPub-count">Nyilvános idéző összesen: 7</span> | Független: 7 | Függő: 0 | Nem jelölt: 0 | WoS jelölt: 7 | Scopus jelölt:&nbsp;5 | WoS/Scopus jelölt:&nbsp;7 | DOI jelölt:&nbsp;6 </div> <div class="publication-citation"> <a target="_blank" href="/api/publication?cond=citations.related;eq;31957574&sort=publishedYear,desc&sort=title"> Idézett közlemények száma: 10 </a> </div> <div class="mtid"><span class="long-pub-mtid">Közlemény: 31957574</span> | <span class="status-data status-VALIDATED"> Egyeztetett </span> Forrás Idéző | <span class="type-subtype">Folyóiratcikk ( Szakcikk ) </span> | <span class="pub-category">Tudományos</span> | <span class="publication-sourceOfData">kézi felvitel</span> </div> <div class="funder"> (KTIA_13_NAP-A-III/6), (OTKA PD 134449), FIKP(Felsőoktatási Intézményi Kiválósági Program) </div> <div class="lastModified">Utolsó módosítás: 2026.06.17. 12:34 Csernyik Rita (MTMT központi admin) </div> <pre class="comment" style="margin-top: 0; margin-bottom: 0;"><u>Megjegyzés</u>: Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, H-1082, Hungary PentaCore Laboratory Budapest, Budapest, H-1094, Hungary Department of Measurement and Information Systems, Budapest University of Technology and Economics, Budapest, H-1117, Hungary Cited By :3 Export ...</pre> </div></div>