The high prevalence of the diabetic patients with a mutation in the mitochondrial gene in Japan

J Clin Endocrinol Metab. 1994 Sep;79(3):768-71. doi: 10.1210/jcem.79.3.8077358.


Recently, an A to G transition at position 3243 in transfer ribonucleic acidLeu(UUR) [the 3243 base-pair (bp) mutation] originally found in patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes has been identified in patients with diabetes and deafness. To determine the prevalence of the diabetic patients with this mutation in Japan, we screened 550 randomly selected cohorts of diabetic patients without prior information about clinical features such as type of diabetes, family history of diabetes, age of onset, and mode of therapy. We have identified 5 patients with this mutation, suggesting that approximately 0.9% of diabetic patients have the 3243 bp mutation. However, there were no subjects with this mutation in 250 controls with normal glucose tolerance. The percentage of mutant DNA in whole mitochondrial DNA did not correlate to the degree of symptoms. We conclude that the 3243 bp mutation in the mitochondrial gene plays an important part as a cause of diabetes in Japan.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Base Sequence
  • DNA, Mitochondrial / genetics*
  • Diabetes Mellitus / drug therapy
  • Diabetes Mellitus / genetics*
  • Female
  • Glucose Tolerance Test
  • Glyburide / therapeutic use
  • Humans
  • Insulin / therapeutic use
  • Japan
  • Middle Aged
  • Molecular Sequence Data
  • Mutation*


  • DNA, Mitochondrial
  • Insulin
  • Glyburide