Lim Byung Chan, Park Jun Dong, Hwang Hee, Kim Ki Joong, Hwang Yong Seung, Chae Jong-Hee, Cheon Jung-Eun, Kim In One, Lee Ran, Moon Han Ku
Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
J Child Neurol. 2009 Jul;24(7):828-32. doi: 10.1177/0883073808331085.
An increasing number of reports on mitochondrial DNA coding regions' mutations, especially in mitochondrial DNA- encoded NADH dehydrogenase (ND) subunit genes of the respiratory chain complex I, have been published recently, making it possible to improve the molecular diagnosis of many mitochondrial diseases in children with variable clinical features. This article describes 2 mitochondrial DNA mutations in the ND3 and ND5 genes in patients showing clinical features of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)/Leigh syndrome overlap syndrome and atypical Leigh syndrome. These cases add to the increasing number of reports stating that mitochondrial DNA-encoded protein-coding regions are mutation hot spots in pediatric patients with encephalopathies with variable clinical spectra.
近年来，关于线粒体DNA编码区突变的报道越来越多，尤其是呼吸链复合体I的线粒体DNA编码的NADH脱氢酶（ND）亚基基因中的突变，这使得改善对许多具有可变临床特征的儿童线粒体疾病的分子诊断成为可能。本文描述了线粒体脑肌病、乳酸酸中毒和卒中样发作（MELAS）/Leigh综合征重叠综合征以及非典型Leigh综合征临床特征患者中ND3和ND5基因的2个线粒体DNA突变。这些病例进一步增加了相关报道的数量，这些报道指出线粒体DNA编码的蛋白质编码区是具有可变临床谱的儿科脑病患者的突变热点。
