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

  • Saidul Abrar
  • Khushi Muhammad
  • Hasnain Zaman
  • Suleman Khan
  • Faisal Nouroz
  • Nousheen Bibi


Background: Type 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.
Aim: Current 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 method This 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 conclusion: Sequencing 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.


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eISSN: 1110-8630