Investigation of 3 Cases of Mitochondrial Diabetes Mellitus With Mitochondrial DNA 3243 (A-G) Mutation

  • Sanoyama Daisuke
    Department of Endocrinology, Diabetes and Metabolism, Graduate School of Medicine, Nippon Medical School
  • Yamaguchi Yuji
    Department of Endocrinology, Diabetes and Metabolism, Graduate School of Medicine, Nippon Medical School
  • Nagao Mototsugu
    Department of Endocrinology, Diabetes and Metabolism, Graduate School of Medicine, Nippon Medical School
  • Nogami Akane
    Department of Neurological Science, Graduate School of Medicine, Nippon Medical School
  • Hattori Naomi
    Department of Endocrinology, Diabetes and Metabolism, Graduate School of Medicine, Nippon Medical School
  • Inagaki Kyoko
    Department of Endocrinology, Diabetes and Metabolism, Graduate School of Medicine, Nippon Medical School
  • Nakajima Yasushi
    Department of Endocrinology, Diabetes and Metabolism, Graduate School of Medicine, Nippon Medical School
  • Oikawa Shinichi
    Department of Endocrinology, Diabetes and Metabolism, Graduate School of Medicine, Nippon Medical School
  • Sugihara Hitoshi
    Department of Endocrinology, Diabetes and Metabolism, Graduate School of Medicine, Nippon Medical School

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Other Title
  • ミトコンドリア糖尿病3症例の検討

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Mitochondrial diabetes mellitus (MDM) presenting with a mitochondrial DNA 3243 (A-G) mutation is most frequently observed in patients with diabetes caused by a genetic defect. Clinical manifestations include short stature, the absence of obesity, young-onset, and the maternal inheritance of diabetes. MDM is strongly associated with neurosensory deafness, which is often overlooked during routine medical care. In this study, we reviewed three cases of MDM presenting with a mitochondrial DNA 3243 (A-G) mutation. All three patients had mild to severe neurosensory deafness. However, the clinical manifestations in these patients were not consistent, with ambiguity in regard to the maternal inheritance of diabetes in some and the absence of obesity. The clinical manifestations of MDM are varied; thus, a through examination, such as a mitochondrial DNA mutation test, seems desirable in cases where diabetes is complicated with neurosensory deafness or in which there is a family history of deafness.

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