{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T21:24:50Z","timestamp":1783113890165,"version":"3.54.6"},"reference-count":25,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2024,2,1]],"date-time":"2024-02-01T00:00:00Z","timestamp":1706745600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2024,2,1]],"date-time":"2024-02-01T00:00:00Z","timestamp":1706745600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100013338","name":"Major Technology Innovation of Hubei Province","doi-asserted-by":"publisher","award":["2020BHB018"],"award-info":[{"award-number":["2020BHB018"]}],"id":[{"id":"10.13039\/501100013338","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100018583","name":"Wuhan Science and Technology Project","doi-asserted-by":"publisher","award":["2023020201010187"],"award-info":[{"award-number":["2023020201010187"]}],"id":[{"id":"10.13039\/501100018583","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2024,2]]},"abstract":"<jats:title>Key Clinical Message<\/jats:title>\n                  <jats:p>Maternally inherited diabetes and deafness (MIDD) is often caused by the m.3243A\u2009&gt;\u2009G mutation in mitochondrial DNA. Unfortunately, the characteristics of MIDD, especially long\u2010term outcomes and heteroplasmic changes, have not been well described previously. The purpose of this study was to describe the clinical and genetic features of a family with MIDD after 10\u2009years of follow\u2010up.A 33\u2010year\u2010old male patient with typical characteristics of MIDD, including early\u2010onset diabetes, deafness, and low body mass index, was admitted to our department. Further investigation revealed that the vast majority of his maternal relatives suffered from diabetes with or without deafness. A detailed family history was then requested from the patient and a pedigree was constructed. The patient suspected of MIDD was screened for mutations using whole mitochondrial DNA sequencing. Candidate pathogenic variants were then validated in other family members through Sanger sequencing. The patient was diagnosed with MIDD, with inherited m.3243A\u2009&gt;\u2009G mutation in the mitochondrially encoded tRNA leucine 1 (MT\u2010TL1) gene, after 10\u2009years of symptom onset. The patient was then treated with insulin and coenzyme Q10 to improve mitochondrial function. During the follow\u2010up period, his fasting blood glucose and HbA1c levels were improved and the incidence of diabetic ketoacidosis was significantly reduced. Our findings indicate that whole mitochondrial DNA sequencing should be considered for patients suspected of MIDD to improve the efficiency of diagnosis and prognosis.<\/jats:p>","DOI":"10.1002\/ccr3.8458","type":"journal-article","created":{"date-parts":[[2024,2,1]],"date-time":"2024-02-01T22:43:15Z","timestamp":1706827395000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["The clinical and genetic characteristics of maternally inherited diabetes and deafness (\n                    <scp>MIDD<\/scp>\n                    ) with mitochondrial m.\n                    <scp>3243A<\/scp>\n                    \u2009&gt;\u2009G mutation: A 10\u2010year follow\u2010up observation study and literature review"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-1094-5679","authenticated-orcid":false,"given":"Shasha","family":"Zheng","sequence":"first","affiliation":[{"name":"Department of Endocrinology, The Central Hospital of Wuhan, Tongji Medical College Huazhong University of Science and Technology  Wuhan China"},{"name":"Hubei Regenerative Medicine Clinical Research Center  Wuhan China"},{"name":"Wuhan Diabetes Clinical Research Center  Wuhan China"},{"name":"Key Laboratory for Molecular Diagnosis of Hubei Province  Wuhan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juanjuan","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, The Central Hospital of Wuhan, Tongji Medical College Huazhong University of Science and Technology  Wuhan China"},{"name":"Hubei Regenerative Medicine Clinical Research Center  Wuhan China"},{"name":"Wuhan Diabetes Clinical Research Center  Wuhan China"},{"name":"Key Laboratory for Molecular Diagnosis of Hubei Province  Wuhan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minxian","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, The Central Hospital of Wuhan, Tongji Medical College Huazhong University of Science and Technology  Wuhan China"},{"name":"Hubei Regenerative Medicine Clinical Research Center  Wuhan China"},{"name":"Wuhan Diabetes Clinical Research Center  Wuhan China"},{"name":"Key Laboratory for Molecular Diagnosis of Hubei Province  Wuhan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pei","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, The Central Hospital of Wuhan, Tongji Medical College Huazhong University of Science and Technology  Wuhan China"},{"name":"Hubei Regenerative Medicine Clinical Research Center  Wuhan China"},{"name":"Wuhan Diabetes Clinical Research Center  Wuhan China"},{"name":"Key Laboratory for Molecular Diagnosis of Hubei Province  Wuhan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Shi","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Hubei Integrated Traditional Chinese and Western Medicine Hospital Hubei University of Chinese Medicine  Wuhan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhongzhi","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Hubei Integrated Traditional Chinese and Western Medicine Hospital Hubei University of Chinese Medicine  Wuhan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhongjing","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, The Central Hospital of Wuhan, Tongji Medical College Huazhong University of Science and Technology  Wuhan China"},{"name":"Hubei Regenerative Medicine Clinical Research Center  Wuhan China"},{"name":"Wuhan Diabetes Clinical Research Center  Wuhan China"},{"name":"Key Laboratory for Molecular Diagnosis of Hubei Province  Wuhan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongmei","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, The Central Hospital of Wuhan, Tongji Medical College Huazhong University of Science and Technology  Wuhan China"},{"name":"Hubei Regenerative Medicine Clinical Research Center  Wuhan China"},{"name":"Wuhan Diabetes Clinical Research Center  Wuhan China"},{"name":"Key Laboratory for Molecular Diagnosis of Hubei Province  Wuhan China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,2,1]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(21)00098-3"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1464-5491.2008.02359.x"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2021.728043"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0892-368"},{"key":"e_1_2_10_6_1","article-title":"The first concurrent detection of mitochondrial DNA m.3243A\u2009>\u2009G mutation, deletion, and depletion in a family with mitochondrial diabetes. Mol genet","volume":"8","author":"Tabebi M","year":"2020","journal-title":"Genomic Med"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/dmrr.3158"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.2337\/dc21-S002"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.diabres.2021.109119"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.survophthal.2019.11.001"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1080\/13816810.2021.1881978"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-004-0363-x"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1262-3636(07)70105-2"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.survophthal.2021.02.008"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30220"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.4158\/EP-2019-0270"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.126.3.320"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/joim.13047"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1001-9294(09)60053-5"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2017.09.009"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mito.2007.03.008"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M116.739482"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004310050663"},{"key":"e_1_2_10_24_1","first-page":"45","article-title":"Mitochondrial toxicity: myths and facts","volume":"9","author":"Moyle G","year":"2004","journal-title":"J HIV Ther"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.2169\/internalmedicine.55.4418"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M113.528968"}],"container-title":["Clinical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.8458","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ccr3.8458","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.8458","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T21:00:55Z","timestamp":1783112455000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ccr3.8458"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,2]]},"references-count":25,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2024,2]]}},"alternative-id":["10.1002\/ccr3.8458"],"URL":"https:\/\/doi.org\/10.1002\/ccr3.8458","archive":["Portico"],"relation":{},"ISSN":["2050-0904","2050-0904"],"issn-type":[{"value":"2050-0904","type":"print"},{"value":"2050-0904","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,2]]},"assertion":[{"value":"2023-09-12","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-01-08","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-02-01","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e8458"}}