期刊
NEPHROLOGY DIALYSIS TRANSPLANTATION
卷 15, 期 3, 页码 385-388出版社
OXFORD UNIV PRESS
DOI: 10.1093/ndt/15.3.385
关键词
deafness; diabetes mellitus; end-stage renal disease; mitochondrial DNA; 3243 point mutation
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.
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