Mitochondrial DNA mutations in diabetes mellitus patients in Chinese Han population

•mtDNA 3243 A → G mutation was associated with DM prevalence in Chinese Han population.•mtDNA 3243 A → G mutation predicted worse clinical status of DM.•Some DM patients carrying double mutations

Background and objectiveMutations of mitochondrial DNA are associated with diabetes mellitus (DM). The present case–control study aimed to investigate the mutations of mitochondrial DNA in DM patients of Chinese Han ethnicity.Methods and resultsA total of 770 DM patients and 309 healthy control individuals were enrolled. The mitochondrial DNA was extracted from blood cells and analyzed by the polymerase chain reaction–restriction fragment length polymorphism assay. In the diabetes group, there were 13 (1.69%) individuals carrying the mt3243 A → G mutation while none of the healthy control had this mutation. Though the 14709, 3316, 3394, and 12026 mutation variants were identified in 9, 17, 18 and 28 in DM patients respectively, there were no significant differences compared with control group. And the 3256, 8296, 8344, 8363, 3426 and 12258 mutations were not detected in either group. In the diabetes group, two double mutations were identified: A3243G+T3394C and A3243G+A12026G.ConclusionOur data suggested that mitochondrial gene tRNALeu(UUR) 3243 A → G mutation may be one risk of prevalence of DM and associated with worse clinical status in Chinese Han population.