Mitochondrial DNA point mutation at nucleotide pair 3316 in a Japanese family with heterogeneous phenotypes of diabetes.

@article{Nakano1998MitochondrialDP,
  title={Mitochondrial DNA point mutation at nucleotide pair 3316 in a Japanese family with heterogeneous phenotypes of diabetes.},
  author={Seigo Nakano and M Fukuda and F Hotta and Teizo Ito and Tomofusa Ishii and Mitsutaka Kitazawa and Makoto Nishizawa and Toshikazu Kigoshi and Hiroaki Kakinuma and Hiroyuki Takahashi and Keiko Uchida},
  journal={Endocrine journal},
  year={1998},
  volume={45 5},
  pages={625-30}
}
A mitochondrial DNA (mtDNA) point mutation at nucleotide pair (np) 3316 has been reported in relation to diabetes. We recently encountered a non-obese family with this type of mutation. The proband in the affected family, a 49-year-old woman who had been previously diagnosed as having an insulin-requiring non-insulin-dependent diabetes mellitus (NIDDM), was referred to our hospital for treatment of diabetic gangrene in her left foot. Her insulin secretory capacity was markedly reduced, but the… CONTINUE READING