Journal Article

Prevalence of Japanese dialysis patients with an A-to-G mutation at nucleotide 3243 of the mitochondrial tRNA<sup>Leu(UUR)</sup> gene

Kunihiro Yamagata, Chie Tomida, Kazuiro Umeyama, Ken-ichi Urakami, Takashi Ishizu, Kouichi Hirayama, Michihiro Gotoh, Tadashi Iitsuka, Katsumi Takemura, Hiroshi Kikuchi, Hideko Nakamura, Masaki Kobayashi and Akio Koyama

in Nephrology Dialysis Transplantation

Published on behalf of European Renal Association - European Dialysis and Transplant Assoc

Volume 15, issue 3, pages 385-388
Published in print March 2000 | ISSN: 0931-0509
Published online March 2000 | e-ISSN: 1460-2385 | DOI: http://dx.doi.org/10.1093/ndt/15.3.385
Prevalence of Japanese dialysis patients with an A-to-G mutation at nucleotide 3243 of the mitochondrial tRNALeu(UUR) gene

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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.

Conclusion. 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.

Keywords: deafness; diabetes mellitus; end-stage renal disease; mitochondrial DNA; 3243 point mutation

Journal Article.  2185 words.  Illustrated.

Subjects: Nephrology

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