Molecular scanning for mutations in the melanocortin-4 receptor gene in obese/diabetic Japanese.
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) > or = 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 < or = 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.
The first Department of Medicine, Wakayama University of Medical Science, 811-1 Kimi-idera, Waykayama 641-8509, Japan.
Y
Y
Ohshiro
T
T
Sanke
K
K
Ueda
Y
Y
Shimajiri
T
T
Nakagawa
K
K
Tsunoda
M
M
Nishi
H
H
Sasaki
N
N
Takasu
K
K
Nanjo
D000818:Animals; D001483:Base Sequence; D016022:Case-Control Studies; D003062:Codon / Q000235:genetics; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000235:genetics; D003924:Diabetes Mellitus, Type 2 / Q000150:complications* / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D007333:Insulin Resistance / Q000235:genetics; D007564:Japan; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009767:Obesity, Morbid / Q000150:complications* / Q000235:genetics*; D044105:Receptor, Melanocortin, Type 4; D018043:Receptors, Corticotropin / Q000235:genetics*
D003062:Codon; D017931:DNA Primers; D044105:Receptor, Melanocortin, Type 4; D018043:Receptors, Corticotropin