A3243G mitochondrial DNA mutation in Tunisian diabetic population.

Background: An excess of maternal transmission of adult onset diabetes mellitus has been observed in the studied Tunisian patients, in fact, diabetic patients with affected mother are significantly more important than those with affected father (p< 10-6) There is increasing evidence that mtDNA mutations may be involved in this disease, since mitochondrial transmission offers a plausible explanation for a proportion of this maternal excess comparing to paternal transmission.

Aim: The aim of the present study was to investigate the mitochondrial DNA involvement in the inheritance of diabetes in Tunisian population and to evaluate the frequency of substitution A3243G in these patients.

Methods: In the current study we investigated for the first time, the 3243 mtDNA in 280 Tunisian diabetic patients.

Results: Results showed that the frequency of this substitution in tRNALeu is about 1.07%. This percentage is similar to those reported in Japanese, German and French populations.