A G-to-A substitution at nucleotide position 3316 in mitochondrial DNA is associated with Japanese non-insulin-dependent diabetes mellitus.
By directly sequencing amplified DNA from 30 patients with non-insulin-dependent diabetes mellitus (NIDDM) who had diabetic family members, we identified a G-to-A mutation at np 3316 in the ND-1 gene of the mitochondrial DNA (mtDNA). DNA from 254 patients with NIDDM or impaired glucose tolerance (IGT), from 154 patients with insulin dependent diabetes mellitus (IDDM) and from 207 non-diabetic control subjects was screened for this substitution. The mutation existed in 5 of 254 Japanese NIDDM or IGT patients (2.0%), but not in other subjects. Its prevalence was significantly higher in NIDDM than in other patients or non-diabetic control subjects. The association of the G-A mutation at np 3316 with glucose intolerance suggests the importance of this area for the development of diabetes.
Odawara
M
M
Institute of Clinical Medicine, University of Tsukuba, Ibaraki, Japan.
Sasaki
K
K
Yamashita
K
K
D000225:Adenine; D000328:Adult; D000368:Aged; D002648:Child; D004272:DNA, Mitochondrial / Q000235:genetics*; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D005260:Female; D006147:Guanine; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D009154:Mutation
D004272:DNA, Mitochondrial; D006147:Guanine; D000225:Adenine