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Investigation of 3 cases of mitochondrial diabetes mellitus with mitochondrial DNA 3243 (A-G) mutation

Sanoyama, Daisuke; Yamaguchi, Yuji; Nagao, Mototsugu LU ; Nogami, Akane; Takeichi-Hattori, Naomi; Inagak, Kyoko; Nakajima, Yasushi; Oikawa, Shinichi and Sugihara, Hitoshi (2016) In Journal of the Japan Diabetes Society 59(6). p.421-428
Abstract

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... (More)

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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Contribution to journal
publication status
published
in
Journal of the Japan Diabetes Society
volume
59
issue
6
pages
8 pages
publisher
Japan Diabetes Society
external identifiers
  • scopus:84976485753
ISSN
0021-437X
language
Japanese
LU publication?
no
id
0216de0b-04e1-4820-9eca-7584fac08198
date added to LUP
2017-08-23 19:58:29
date last changed
2017-08-24 15:01:48
@article{0216de0b-04e1-4820-9eca-7584fac08198,
  abstract     = {<p>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.</p>},
  author       = {Sanoyama, Daisuke and Yamaguchi, Yuji and Nagao, Mototsugu and Nogami, Akane and Takeichi-Hattori, Naomi and Inagak, Kyoko and Nakajima, Yasushi and Oikawa, Shinichi and Sugihara, Hitoshi},
  issn         = {0021-437X},
  language     = {jpn},
  number       = {6},
  pages        = {421--428},
  publisher    = {Japan Diabetes Society},
  series       = {Journal of the Japan Diabetes Society},
  title        = {Investigation of 3 cases of mitochondrial diabetes mellitus with mitochondrial DNA 3243 (A-G) mutation},
  volume       = {59},
  year         = {2016},
}