{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:01:30Z","timestamp":1753869690995,"version":"3.41.2"},"reference-count":54,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2020,5,11]],"date-time":"2020-05-11T00:00:00Z","timestamp":1589155200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"name":"The Ministry of Higher Education and Scientific Research, Tunisia"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2020,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Mitochondrial diabetes (MD) is a rare monogenic form of diabetes and divided into type l and type 2. It is characterized by a strong familial clustering of diabetes with the presence of maternal transmission in conjunction with bilateral hearing impairment in most of the carriers. The most common form of MD is associated with the m.3243A&gt;G mutation in the mitochondrial <jats:italic>MT\u2010TL1<\/jats:italic>, but there are also association with a range of other point mutations, deletion, and depletion in mtDNA.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The mitochondrial genome anomalies were investigated in a family with clinical features of MD, which includes a proband presenting severe MD conditions including cardiomyopathy, retinopathy, and psychomotor retardation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>By investigating the patient's blood leukocytes and skeletal muscle, we identified the m.3243A&gt;G mutation in heteroplasmic state. This mutation was absent in the rest of the family members. In addition, our analysis revealed in the proband a large mtDNA heteroplasmic deletion (~1\u00a0kb) and a reduction in mtDNA copy number.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our study points out, for the first time, a severe phenotypic expression of the m.3243A&gt;G point mutation in association with mtDNA deletion and depletion in MD.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1292","type":"journal-article","created":{"date-parts":[[2020,5,12]],"date-time":"2020-05-12T07:09:56Z","timestamp":1589267396000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["The first concurrent detection of mitochondrial DNA m.3243A&gt;G mutation, deletion, and depletion in a family with mitochondrial diabetes"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2873-161X","authenticated-orcid":false,"given":"Mouna","family":"Tabebi","sequence":"first","affiliation":[{"name":"Molecular and Functional Genetics Laboratory Faculty of Science of Sfax University of Sfax Sfax Tunisia"},{"name":"Human Molecular Genetics Laboratory Faculty of Medicine of Sfax University of Sfax Sfax Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wajdi","family":"Safi","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Diabetology CHU Hedi Chaker Sfax Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rahma","family":"Felhi","sequence":"additional","affiliation":[{"name":"Molecular and Functional Genetics Laboratory Faculty of Science of Sfax University of Sfax Sfax Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olfa","family":"Alila 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