Prevalence of Japanese dialysis patients with an A-to-G mutation at nucleotide 3243 of the mitochondrial tRNA(Leu(UUR)) gene.
BACKGROUND
A high prevalence of an A-to-G mutation at nucleotide 3243 of the mitochondrial genome in patients with diabetes mellitus (DM) and/or deafness has been reported previously. We investigated the prevalence of this mutation in Japanese dialysis patients with associated DM and/or deafness.


METHODS
We studied 106 dialysis patients with DM, 26 with DM and deafness, and 26 with deafness alone, using peripheral leucocytes to detect an A-to-G transition at nucleotide 3243 of the mitochondrial gene.


RESULTS
We identified this transition in 1 of 26 patients with DM and deafness. None of the 106 DM or 26 dialysis patients with deafness but no DM was positive for this mutation. A 42-year-old male patient on continuous ambulatory peritoneal dialysis (CAPD) who carried this mutation had a 20-year history of sensory hearing loss as well as hypertrophic cardiomyopathy.


CONCLUSIONS
We found that a mitochondrial gene mutation at nucleotide 3243 was present in one dialysis patient with NIDDM and deafness. The prevalence of this mutation was found to be below 1% in diabetic end-stage renal disease patients in Japan.
Yamagata
K
K
Department of Internal Medicine, Institute of Clinical Medicine, University of Tsukuba and Terumo Corporation R&D Center, Tsukuba, Japan.
Tomida
C
C
Umeyama
K
K
Urakami
K i
Ki
Ishizu
T
T
Hirayama
K
K
Gotoh
M
M
Iitsuka
T
T
Takemura
K
K
Kikuchi
H
H
Nakamura
H
H
Kobayashi
M
M
Koyama
A
A
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001483:Base Sequence / Q000235:genetics; D006332:Cardiomegaly / Q000150:complications / Q000473:pathology; D004272:DNA, Mitochondrial / Q000235:genetics; D003638:Deafness / Q000150:complications / Q000235:genetics; D003924:Diabetes Mellitus, Type 2 / Q000150:complications / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D006801:Humans; D007564:Japan; D007676:Kidney Failure, Chronic / Q000150:complications / Q000235:genetics / Q000628:therapy; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D008928:Mitochondria / Q000235:genetics; D008929:Mitochondria, Heart / Q000648:ultrastructure; D009154:Mutation / Q000235:genetics*; D009206:Myocardium / Q000473:pathology; D010531:Peritoneal Dialysis, Continuous Ambulatory; D012356:RNA, Transfer, Leu / Q000235:genetics; D006435:Renal Dialysis; D014927:Wolff-Parkinson-White Syndrome / Q000150:complications / Q000473:pathology
D004272:DNA, Mitochondrial; D012356:RNA, Transfer, Leu