{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T22:26:07Z","timestamp":1787610367014,"version":"build-2736575974"},"reference-count":11,"publisher":"Korean Diabetes Association","issue":"3","license":[{"start":{"date-parts":[[2024,2,1]],"date-time":"2024-02-01T00:00:00Z","timestamp":1706745600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003710","name":"Korea Health Industry Development Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003710","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003625","name":"Ministry of Health and Welfare","doi-asserted-by":"publisher","award":["HI15C3131"],"award-info":[{"award-number":["HI15C3131"]}],"id":[{"id":"10.13039\/501100003625","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004332","name":"Seoul National University Hospital","doi-asserted-by":"publisher","award":["0320220080"],"award-info":[{"award-number":["0320220080"]}],"id":[{"id":"10.13039\/501100004332","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007687","name":"Korean Diabetes Association","doi-asserted-by":"publisher","award":["2021F-6"],"award-info":[{"award-number":["2021F-6"]}],"id":[{"id":"10.13039\/100007687","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["U01HG011723"],"award-info":[{"award-number":["U01HG011723"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["e-dmj.org"],"crossmark-restriction":true},"short-container-title":["Diabetes Metab J"],"published-print":{"date-parts":[[2024,5,31]]},"abstract":"<jats:p>Maternally inherited diabetes and deafness (MIDD) is a rare mitochondrial disorder primarily resulting from m.3243A&gt;G mutation. The clinical characteristics of MIDD exhibit significant heterogeneity. Our study aims to delineate these characteristics and determine the potential correlation with m.3243A&gt;G heteroplasmy levels. This retrospective, descriptive study encompassed patients with confirmed m.3243A&gt;G mutation and diabetes mellitus at Seoul National University Hospital. Our cohort comprises 40 patients with MIDD, with a mean age at study enrollment of 33.3\u00b112.9 years and an average % of heteroplasmy of 30.0%\u00b1 14.6% in the peripheral blood. The most prevalent comorbidity was hearing loss (90%), followed by albuminuria (61%), seizure (38%), and stroke (33%). We observed a significant negative correlation between % of heteroplasmy and age at diabetes diagnosis. These clinical features can aid in the suspicion of MIDD and further consideration of genetic testing for m.3243A&gt;G mutation.<\/jats:p>","DOI":"10.4093\/dmj.2023.0078","type":"journal-article","created":{"date-parts":[[2024,2,4]],"date-time":"2024-02-04T19:24:48Z","timestamp":1707074688000},"page":"482-486","update-policy":"https:\/\/doi.org\/10.4093\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Clinical Characteristics of Diabetes in People with Mitochondrial DNA 3243A&amp;gt;G Mutation in Korea"],"prefix":"10.4093","volume":"48","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-3981-7870","authenticated-orcid":true,"given":"Eun Hoo","family":"Rho","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sang Ik","family":"Baek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heerah","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moon-Woo","family":"Seong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jong-Hee","family":"Chae","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kyong Soo","family":"Park","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1230-0919","authenticated-orcid":true,"given":"Soo Heon","family":"Kwak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"2567","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2008-2680"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1464-5491.2008.02359.x"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-012-9465-2"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1530\/eje-20-0189"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2021.728043"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2009.03.002"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.039339"},{"key":"ref8","first-page":"e8262","volume-title":"mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A&gt;G mitochondrial disease","author":"Grady","year":"2018"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2018-02397"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-662-41088-2_19"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1007\/s001250050139"}],"container-title":["Diabetes &amp; Metabolism Journal"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.e-dmj.org\/upload\/pdf\/dmj-2023-0078.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.e-dmj.org\/journal\/view.php?doi=10.4093\/dmj.2023.0078","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.e-dmj.org\/upload\/pdf\/dmj-2023-0078.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,24]],"date-time":"2024-05-24T00:07:24Z","timestamp":1716509244000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.e-dmj.org\/journal\/view.php?doi=10.4093\/dmj.2023.0078"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5,31]]},"references-count":11,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2024,5]]}},"URL":"https:\/\/doi.org\/10.4093\/dmj.2023.0078","relation":{},"ISSN":["2233-6079","2233-6087"],"issn-type":[{"value":"2233-6079","type":"print"},{"value":"2233-6087","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,5,31]]},"assertion":[{"value":"2023-03-10","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-07-20","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-02-01","order":2,"name":"published","label":"Published online","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-05-31","order":3,"name":"published","label":"Print publication","group":{"name":"publication_history","label":"Publication History"}}]}}