[Analysis of mitochondrial DNA gene tRNALeu(UUR) A3243G mutation in diabetic pedigrees].

Objective: To investigate the clinical characteristics and the prevalence of mitochondrial gene A3243G mutation in diabetic pedigrees.

Methods: Nineteen suspected mitochondrial DNA diabetic family members from three families were recruited. The gene fragment was amplified by PCR, and mutation was detected by direct sequencing.

Results: In three pedigrees, the three probands and their mothers were found carrying the most common nt3243A>G mutation. Most of diabetic patients in these families were deaf and diabetes was developed at early age, characterized by impaired beta cell function and low body mass index (BMI).

Conclusion: The mitochondrial gene A3243G mutation may cause diabetes mellitus and deaf.