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The point mutation of 3243A&gt;G mtDNA is the most frequent cause of mitochondrial diabetes, often presenting as the syndrome maternally inherited diabetes and deafness (MIDD). The mutation may also cause myopathy, ataxia, strokes, ophthalmoplegia, epilepsy, and cardiomyopathy in various combinations. Consequently, it is difficult to predict the "phenotypic risk profile" of 3243A&gt;G mutation-positive subjects. The 3243A&gt;G mutation coexists in cells with wild-type mtDNA, a phenomenon called heteroplasmy. The marked variability in mutation loads in different tissues is the main explanation for the different phenotypes associated with this mutation.

the journal of clinical endocrinology and metabolism/journal of clinical endocrinology and metabolism

High Prevalence of Impaired Glucose Homeostasis and Myopathy in Asymptomatic and Oligosymptomatic 3243A&gt;G Mitochondrial DNA Mutation-Positive Subjects