{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T15:45:10Z","timestamp":1792079110812,"version":"4.4.0"},"reference-count":52,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2021,11,25]],"date-time":"2021-11-25T00:00:00Z","timestamp":1637798400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Endocrinol."],"abstract":"<jats:sec><jats:title>Aims<\/jats:title><jats:p>To investigate the clinical features and mitochondrial mutations for maternally inherited diabetes and deafness.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>PubMed, Embase, Medline, Web of Science, the China National Knowledge Infrastructure, and Wanfang were searched with the following search terms: \u201cMaternally inherited diabetes and deafness\u201d OR \u201cMIDD\u201d OR \u201cMitochondrial diabetes\u201d. The mutations and clinical features were analyzed. Correlation between the heteroplasmy levels of the m.3243A&amp;gt;G mutation in the peripheral blood and age at the onset of diabetes was conducted by Spearman test. The significance level was set as p &amp;lt; 0.05. Statistical analysis was performed using the Statistical Package for the Social Sciences version 26 for Windows.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Totally 161 patients with 21 different mitochondrial mutations were enrolled. The most common mutation was the m.3243A&amp;gt;G mutation in 136 cases. Of 142 patients, 120 (84.51%) had family histories of diabetes or hearing loss. Hearing loss presented in 85.71% of the patients with mitochondrial mutations. Central nervous system diseases were found in 29.19%, myopathy in 22.98%, oculopathy in 23.60%, cardiac disease in 23.60%, and nephropathy in 13.66% of the patients. Forty-two of 101 (41.58%) patients were underweight. A significant negative correlation was found between the heteroplasmy levels of the m.3243A&amp;gt;G mutation in the peripheral blood and age at the onset of diabetes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The young onset of diabetes with low or normal BMI, maternal inheritance, and presence of impairments of multiple systems should prompt a genetic testing in order to differentiate MIDD from other types of diabetes earlier.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fendo.2021.728043","type":"journal-article","created":{"date-parts":[[2021,11,30]],"date-time":"2021-11-30T23:31:55Z","timestamp":1638315115000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":54,"title":["The Mutations and Clinical Variability in Maternally Inherited Diabetes and Deafness: An Analysis of 161 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