Open AccessMolecular genetic analysis of Type II diabetes associated m.3243A>G mitochondrial DNA mutation in a Pakistani family
Author(s) -
Saidul Abrar,
Khushi Muhammad,
Hasnain Zaman,
Shakeel Khan,
Faisal Nouroz,
Nousheen Bibi
Publication year - 2017
Publication title -
the egyptian journal of medical human genetics /the egyptian journal of medical human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.253
H-Index - 17
eISSN - 2090-2441
pISSN - 1110-8630
DOI - 10.1016/j.ejmhg.2016.12.001
Subject(s) - mitochondrial dna , genetics , context (archaeology) , mutation , biology , mitochondrial disease , point mutation , polymerase chain reaction , gene , paleontology
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 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 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