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Molecular scanning for mutations in the melanocortin-4 receptor gene in obese/diabetic Japanese

Published online by Cambridge University Press:  01 November 1999

Y. OHSHIRO ,
T. SANKE ,
K. UEDA ,
Y. SHIMAJIRI ,
T. NAKAGAWA ,
K. TSUNODA ,
M. NISHI ,
H. SASAKI ,
N. TAKASU  and
K. NANJO
Y. OHSHIRO
Affiliation:
The First Department of Medicine, Wakayama University of Medical Science, 811-1 Kimi-idera, Wakayama 641-8509, Japan
T. SANKE
Affiliation:
The First Department of Medicine, Wakayama University of Medical Science, 811-1 Kimi-idera, Wakayama 641-8509, Japan
K. UEDA
Affiliation:
The First Department of Medicine, Wakayama University of Medical Science, 811-1 Kimi-idera, Wakayama 641-8509, Japan
Y. SHIMAJIRI
Affiliation:
The First Department of Medicine, Wakayama University of Medical Science, 811-1 Kimi-idera, Wakayama 641-8509, Japan
T. NAKAGAWA
Affiliation:
The First Department of Medicine, Wakayama University of Medical Science, 811-1 Kimi-idera, Wakayama 641-8509, Japan
K. TSUNODA
Affiliation:
The First Department of Medicine, Wakayama University of Medical Science, 811-1 Kimi-idera, Wakayama 641-8509, Japan
M. NISHI
Affiliation:
The First Department of Medicine, Wakayama University of Medical Science, 811-1 Kimi-idera, Wakayama 641-8509, Japan
H. SASAKI
Affiliation:
The First Department of Medicine, Wakayama University of Medical Science, 811-1 Kimi-idera, Wakayama 641-8509, Japan
N. TAKASU
Affiliation:
Second Department of Internal Medicine, University of the Ryukyus, 207 Uehara, Nishihara 903-0215, Japan
K. NANJO
Affiliation:
The First Department of Medicine, Wakayama University of Medical Science, 811-1 Kimi-idera, Wakayama 641-8509, Japan
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Abstract

Decreased function of the melanocortin-4 receptor (MC4R) was reported to cause late-onset obesity and insulin resistance in rodents. Thus mutations in the MC4R gene drew strong attention as a possible cause of obesity and diabetes. We screened for mutations in the MC4R gene in extremely obese [body mass index (BMI) [ges ] 35 kg/m2] Japanese with diabetes by direct sequencing. A heterozygous mutation (V103I) was detected in one case (2.0 %), however the frequency was not significantly different from that in non-obese (BMI [les ] 24 kg/m2) and non-diabetic subjects (2.7 %). No other mutations were detected. These results suggest that mutations including V103I in the MC4R gene are not a major cause of obesity or diabetes in Japanese.

Type
Research Article
Information
Annals of Human Genetics , Volume 63 , Issue 6 , November 1999 , pp. 483 - 487
Copyright
© University College London 1999

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