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

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.
Source: Egyptian Journal of Medical Human Genetics - Category: Genetics & Stem Cells Source Type: research