The present study aims to detect 3243 A/G and 3316 G/A mitochondrial DNA (mtDNA) mutations in the Nagpur population. A total of 142 patients of type 2 diabetes mellitus and 142 healthy control individuals were selected for the study from Nagpur city. Selected mutations studied using Restriction Fragment Length Polymorphism (RFLP) method and confirmed by DNA sequencing. Results showed that 3316 G/A mt DNA mutation found in seven patients of type 2 diabetes mellitus with a 4.92% prevalence, however, found absent in healthy control individuals. Chi-Square and Fisher's exact test showed a significant association between healthy control individuals and type 2 diabetes mellitus patients detected with 3316 G/A mutation (p≤0.01). ODDS ratio found significant (for 95% CI; p=0.05) for 3316 G/A mutation. Further, we did find 3243 A/G mtDNA mutation in the studied population. Among studied mutations, 3316 G/A mutation in the ND1 gene is a pathogenic mutation that may responsible for type 2 diabetes mellitus in the Nagpur population.
Key words: Mitochondrial DNA, 3316 G/A mutation, 3243 A/G mutation, DNA sequencing, heteroplasmy, homoplasmy.
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