Detection of 3243 A/G and 3316 G/A mitochondrial DNA mutations in Nagpur population

ABSTRACT

The present study aims to detect 3243 A/G and 3316 G/A mitochondrial DNA (mtDNA) mutations in Nagpurpopulation. Total of 142 patients of type 2 diabetes mellitus and 142 healthy control individuals were selected forthe study from Nagpur city. Selected mutations studied using restriction fragment length polymorphism methodand confirmed by DNA sequencing. Results showed that 3316 G/A mt DNA mutation found in seven patientsof type 2 diabetes mellitus with a 4.92% prevalence, however, found absent in healthy control individuals. ChiSquare and Fisher's exact test showed a significant association between healthy control individuals and type 2diabetes 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. Furthermore, we did not find 3243 A/G mtDNA mutation in the studiedpopulation. Among studied mutations, 3316 G/A mutation in the ND1 gene is a pathogenic mutation that mayresponsible for type 2 diabetes mellitus in the Nagpur population.