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 t he mitochondrial genome in patients with diabetes mellitus (DM) and/or deaf ness has been reported previously. We investigated the prevalence of this m utation 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 deaf ness. None of the 106 DM or 26 dialysis patients with deafness but no DM wa s positive for this mutation. A 42-year-old male patient on continuous ambu latory peritoneal dialysis (CAPD) who carried this mutation had a 20-year h istory 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 dise ase patients in Japan.