MITOCHONDRIAL DIABETES-MELLITUS - A REVIEW

We review the relationship between various types of mitochondrial DNA mutations and the prevalence as well as the pathobiochemical and clini cal features of mitochondrial diabetes mellitus. An A to G transversio n mutation in the tRNA(Leu(UUR)) gene is associated with diabetes in a bout 1.5% of the diabetic population in different countries and races. Phenotypically this type of mitochondrial diabetes is combined with d eafness in more than 60% and is clinically distinguishable with respec t to several characteristics from the two idiopathic forms of diabetes . The underlying pathomechanism is probably a delayed insulin secretio n due to an impaired mitochondrial ATP production in consequence of th e mtDNA defect.