Prevalence of Japanese dialysis patients with an A-to-G mutation at nucleotide 3243 of the mitochondrial tRNALeu(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 paticnts with DM, 26 with DM and deafness, and 26 with deafness alone, using peripheral leucocytcs 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 deafncss. 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 deafncss. The prevalence of this mutation was found to be below 1% in diabetic end-stage renal diseasc paticnts in Japan.