Mitochondrial DNA mutations in diabetes mellitus patients in Chinese Han population

Gene. 2013 Dec 1;531(2):472-5. doi: 10.1016/j.gene.2013.09.019. Epub 2013 Sep 19.


Background and objective: Mutations 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 results: A 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.

Conclusion: Our data suggested that mitochondrial gene tRNA(Leu(UUR)) 3243 A → G mutation may be one risk of prevalence of DM and associated with worse clinical status in Chinese Han population.

Keywords: ADA; American Diabetes Association; BMI; Chinese Han ethnicity; DM; Diabetes mellitus; FIN; FPG; GAD-Ab; HOMA; IA2; MELAS; Mitochondrial DNA; Mutation; PCR–RFLP; Prevalence; SPSS; Statistical Package for the Social Sciences; body mass index; diabetes; fasting insulin; fasting plasma glucose; glutamate decarboxylase antibody; homeostatic assay; mitochondrial DNA; mtDNA; polymerase chain reaction–restriction fragment length polymorphism; protein-tyrosine-phosphatase antibody; syndrome of mitochondrial encephalomyopathy with lactic acidosis.

MeSH terms

  • Adult
  • Aged
  • Asian Continental Ancestry Group / genetics
  • Asian Continental Ancestry Group / statistics & numerical data
  • Case-Control Studies
  • DNA, Mitochondrial / genetics*
  • Diabetes Mellitus, Type 2 / epidemiology
  • Diabetes Mellitus, Type 2 / ethnology
  • Diabetes Mellitus, Type 2 / genetics*
  • Female
  • Humans
  • Male
  • Middle Aged
  • Point Mutation* / physiology
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Polymorphism, Single Nucleotide / physiology
  • Prevalence


  • DNA, Mitochondrial