The Mutations and Clinical Variability in Maternally Inherited Diabetes and Deafness: An Analysis of 161 Patients

AimsTo investigate the clinical features and mitochondrial mutations for maternally inherited diabetes and deafness.MethodsPubMed, Embase, Medline, Web of Science, the China National Knowledge Infrastructure, and Wanfang were searched with the following search terms: “Maternally inherited diabetes a...

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Autores principales:	Mengge Yang, Lusi Xu, Chunmei Xu, Yuying Cui, Shan Jiang, Jianjun Dong, Lin Liao
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	treatment diagnosis mitochondrial gene mutations heteroplasmy maternally inherited diabetes and deafness Diseases of the endocrine glands. Clinical endocrinology RC648-665
Acceso en línea:	https://doaj.org/article/01b90d2f75254930a76c548764f6fcf2
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spelling	oai:doaj.org-article:01b90d2f75254930a76c548764f6fcf22021-11-30T21:43:20ZThe Mutations and Clinical Variability in Maternally Inherited Diabetes and Deafness: An Analysis of 161 Patients1664-239210.3389/fendo.2021.728043https://doaj.org/article/01b90d2f75254930a76c548764f6fcf22021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fendo.2021.728043/fullhttps://doaj.org/toc/1664-2392AimsTo investigate the clinical features and mitochondrial mutations for maternally inherited diabetes and deafness.MethodsPubMed, Embase, Medline, Web of Science, the China National Knowledge Infrastructure, and Wanfang were searched with the following search terms: “Maternally inherited diabetes and deafness” OR “MIDD” OR “Mitochondrial diabetes”. The mutations and clinical features were analyzed. Correlation between the heteroplasmy levels of the m.3243A>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 < 0.05. Statistical analysis was performed using the Statistical Package for the Social Sciences version 26 for Windows.ResultsTotally 161 patients with 21 different mitochondrial mutations were enrolled. The most common mutation was the m.3243A>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>G mutation in the peripheral blood and age at the onset of diabetes.ConclusionsThe 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.Mengge YangMengge YangLusi XuLusi XuChunmei XuChunmei XuYuying CuiShan JiangJianjun DongLin LiaoLin LiaoFrontiers Media S.A.articletreatmentdiagnosismitochondrial gene mutationsheteroplasmymaternally inherited diabetes and deafnessDiseases of the endocrine glands. Clinical endocrinologyRC648-665ENFrontiers in Endocrinology, Vol 12 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	treatment diagnosis mitochondrial gene mutations heteroplasmy maternally inherited diabetes and deafness Diseases of the endocrine glands. Clinical endocrinology RC648-665
spellingShingle	treatment diagnosis mitochondrial gene mutations heteroplasmy maternally inherited diabetes and deafness Diseases of the endocrine glands. Clinical endocrinology RC648-665 Mengge Yang Mengge Yang Lusi Xu Lusi Xu Chunmei Xu Chunmei Xu Yuying Cui Shan Jiang Jianjun Dong Lin Liao Lin Liao The Mutations and Clinical Variability in Maternally Inherited Diabetes and Deafness: An Analysis of 161 Patients
description	AimsTo investigate the clinical features and mitochondrial mutations for maternally inherited diabetes and deafness.MethodsPubMed, Embase, Medline, Web of Science, the China National Knowledge Infrastructure, and Wanfang were searched with the following search terms: “Maternally inherited diabetes and deafness” OR “MIDD” OR “Mitochondrial diabetes”. The mutations and clinical features were analyzed. Correlation between the heteroplasmy levels of the m.3243A>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 < 0.05. Statistical analysis was performed using the Statistical Package for the Social Sciences version 26 for Windows.ResultsTotally 161 patients with 21 different mitochondrial mutations were enrolled. The most common mutation was the m.3243A>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>G mutation in the peripheral blood and age at the onset of diabetes.ConclusionsThe 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.
format	article
author	Mengge Yang Mengge Yang Lusi Xu Lusi Xu Chunmei Xu Chunmei Xu Yuying Cui Shan Jiang Jianjun Dong Lin Liao Lin Liao
author_facet	Mengge Yang Mengge Yang Lusi Xu Lusi Xu Chunmei Xu Chunmei Xu Yuying Cui Shan Jiang Jianjun Dong Lin Liao Lin Liao
author_sort	Mengge Yang
title	The Mutations and Clinical Variability in Maternally Inherited Diabetes and Deafness: An Analysis of 161 Patients
title_short	The Mutations and Clinical Variability in Maternally Inherited Diabetes and Deafness: An Analysis of 161 Patients
title_full	The Mutations and Clinical Variability in Maternally Inherited Diabetes and Deafness: An Analysis of 161 Patients
title_fullStr	The Mutations and Clinical Variability in Maternally Inherited Diabetes and Deafness: An Analysis of 161 Patients
title_full_unstemmed	The Mutations and Clinical Variability in Maternally Inherited Diabetes and Deafness: An Analysis of 161 Patients
title_sort	mutations and clinical variability in maternally inherited diabetes and deafness: an analysis of 161 patients
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/01b90d2f75254930a76c548764f6fcf2
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The Mutations and Clinical Variability in Maternally Inherited Diabetes and Deafness: An Analysis of 161 Patients

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