Mitochondrial diabetes (MD) is a rare monogenic form of diabetes and divided into type l and type 2. It is characterized by a strong familial clustering of diabetes with the presence of maternal transmission in conjunction with bilateral hearing impairment in most of the carriers. The most common form of MD is associated with the m.3243A>G mutation in the mitochondrial MT‐TL1 , but there are also association with a range of other point mutations, deletion, and depletion in mtDNA.

中文翻译：

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线粒体糖尿病家族中首次同时检测线粒体DNA m.3243A> G突变，缺失和耗竭。

线粒体糖尿病（MD）是一种罕见的单基因糖尿病，分为1型和2型。它的特征是糖尿病的家族性强聚集，在大多数携带者中伴有母体传播以及双侧听力障碍。MD的最常见形式与线粒体MT-TL1中的m.3243A> G突变相关，但也与mtDNA中的一系列其他点突变，缺失和耗竭相关。