Molecular genetic analysis of Type II diabetes associated m.3243A>G mitochondrial DNA mutation in a Pakistani family

BackgroundType II diabetes is the most often considered as maternally inherited disease and A>G transition at position 3243 of mitochondrial DNA (m.3243A>G) in the encoding tRNALeu (UUR) gene is thought to be strongly responsible for the pathogenesis of the disease in number of cases.AimCurrent study was conducted to investigate the family prevalence of m.3243A>G mutation in a Pakistani family with the context of insulin sensitivity and B-cell function.Subject and methodThis study was carried out in 6 suspected diabetic members of a Pakistani family. Mitochondrial DNA was extracted from saliva and after polymerase chain reaction, amplified DNA was subjected to direct sequencing.Results and conclusionSequencing results revealed absence of most common mtDNA m.3243A>G mutation in 6 subjects with devotedly congenital mitochondrial diabetes phenotype. Conclusively, the m.3243A>G mutation in mitochondrial tRNALeu gene was not found to be a frequent cause of Type II diabetes mellitus in a Pakistani (haripur) family. Our finding suggests that there might be some underlying genetic cause for Type II diabetes mellitus in the subjects under study.