A G-to-A substitution at nucleotide position 3316 in mitochondrial DNA is associated with Japanese non-insulin-dependent diabetes mellitus

Biochem Biophys Res Commun. 1996 Oct 3;227(1):147-51. doi: 10.1006/bbrc.1996.1481.


By directly sequencing amplified DNA from 30 patients with non-insulin-dependent diabetes mellitus (NIDDM) who had diabetic family members, we identified a G-to-A mutation at np 3316 in the ND-1 gene of the mitochondrial DNA (mtDNA). DNA from 254 patients with NIDDM or impaired glucose tolerance (IGT), from 154 patients with insulin dependent diabetes mellitus (IDDM) and from 207 non-diabetic control subjects was screened for this substitution. The mutation existed in 5 of 254 Japanese NIDDM or IGT patients (2.0%), but not in other subjects. Its prevalence was significantly higher in NIDDM than in other patients or non-diabetic control subjects. The association of the G-A mutation at np 3316 with glucose intolerance suggests the importance of this area for the development of diabetes.

MeSH terms

  • Adenine
  • Adult
  • Aged
  • Child
  • DNA, Mitochondrial / genetics*
  • Diabetes Mellitus, Type 2 / genetics*
  • Diabetes Mellitus, Type 2 / metabolism
  • Diabetes Mellitus, Type 2 / pathology
  • Female
  • Guanine
  • Humans
  • Japan
  • Male
  • Middle Aged
  • Mutation*


  • DNA, Mitochondrial
  • Guanine
  • Adenine