Abstract
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.
Highlights
Diabetes mellitus is one of the most important chronic noncommunicable disease, which has been a significant global public health problem
Asian cases accounted for the largest part (108 cases, 67.08%), followed by European (43 cases, 26.71%), North American (5 cases, 3.11%), South American (3 cases, 1.86%), African and Oceania (1 case, 0.62%, respectively)
Our study demonstrated the maternally inherited diabetes and deafness (MIDD) patients with most mutations had the following clinical characteristics: [1] high incidence of progressive neurosensory deafness (85.71%); [2] early onset of diabetes and deafness; [3]
Summary
Diabetes mellitus is one of the most important chronic noncommunicable disease, which has been a significant global public health problem. The incidence of monogenic diabetes mellitus has increased in recent years due to greater awareness and wider availability of genetic testing. Monogenic diabetes mellitus comprises a heterogeneous group of diabetes which are caused by a single gene defect [1]. A subtype of monogenic diabetes associated with mutations in the mitochondrial DNA is referred to as maternally inherited diabetes and deafness (MIDD), which was first described in 1992 by Van den Ouveland et al [2]. The clinical features of MIDD are variable, and MIDD is frequently misdiagnosed as other types of diabetes. Our study summarized the clinical features and mutations in reported MIDD to help the doctors better diagnose and manage these patients
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