The first concurrent detection of mitochondrial DNA m.3243AG mutation deletion and depletion in a family with mitochondrial diabetes

摘要

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 , but there are also association with a range of other point mutations, deletion, and depletion in mtDNA.