首页 | 本学科首页   官方微博 | 高级检索  
     


Prevalence of A-to-G mutation at nucleotide 3243 of the mitochondrial tRNALeu(UUR) gene in Japanese patients with diabetes mellitus and end stage renal disease
Authors:N. Iwasaki  T. Babazono  K. Tsuchiya  O. Tomonaga  A. Suzuki  M. Togashi  N. Ujihara  Y. Sakka  H. Yokokawa  M. Ogata  H. Nihei  Y. Iwamoto
Affiliation:(1) Diabetes Center, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku-ku, Tokyo 162-8666, Japan Tel. +81-3-3353-8111ext. 27113; Fax +81-3-3358-1941 e-mail: niwasaki@dmc.twmu.ac.jp, JP;(2) Kidney Center, Tokyo Women's Medical University, Tokyo, Japan, JP;(3) Second Department of Histology, Tokyo Women's Medical University, Tokyo, Japan, JP
Abstract:The A-to-G mutation at nucleotide 3243 of the mitochondrial tRNA Leu(UUR) gene (mt.3243A>G) is associated with both diabetes mellitus and myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). Recently, this mutation was found in three diabetic subjects with progressive kidney disease, suggesting that it may be a contributing factor in the development of kidney disease in patients with diabetes. The aim of this study was to evaluate the contribution of this mutation to the development of end stage renal disease (ESRD) in patients with diabetes. The study group consisted of 135 patients with diabetes and ESRD. The control group consisted of 92 non-diabetic subjects with ESRD who were receiving hemodialysis. The mt.3243A>G mutation was detected by polymerase chain reaction-restriction frag-ment length polymorphism (PCR-RFLP). We found the mt.3243A>G mutation in eight patients (8/135; 5.9%), all of whom were initially diagnosed with type II diabetes. Five of the eight patients were subsequently also diagnosed with MELAS. We did not find the mutation in any of the 92 non-diabetic subjects with ESRD. The prevalence of this mutation was 6.5-fold higher in patients with diabetes and ESRD than in those with diabetes alone (8/135 vs 5/550, respectively; χ2 = 13.704; P = 0.0002). The mt.3243A>G mutation may be a contributing genetic factor in the development of ESRD in Japanese patients with diabetes. Received: November 29, 2000 / Accepted: February 27, 2001
Keywords:Diabetes mellitus  Mitochondria  MELAS  End stage renal disease  Genetics  Nephropathy  Susceptibility gene  Hemodialysis
本文献已被 PubMed SpringerLink 等数据库收录!
设为首页 | 免责声明 | 关于勤云 | 加入收藏

Copyright©北京勤云科技发展有限公司  京ICP备09084417号