Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood
Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood
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DOI：
10.1016/j.jpeds.2007.01.044
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发表时间：
2007-05-01
影响因子：
5.1
通讯作者：
Rotig, Agnes
中科院分区：
文献类型：
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作者：
Sarzi, Emmanuelle;Bourdon, Alice;Rotig, Agnes
目的探讨线粒体DNA(MtDNA)耗竭综合征在多发性呼吸链缺陷中的实际发生率。研究设计对100例原因不明的多发性氧化磷酸化酶缺乏症患儿的肝脏或肌肉组织中线粒体DNA进行实时定量检测。结果半数(50/100)患儿肝脏和/或肌肉中线粒体DNA拷贝数减少至对照组的35%。这些患者大多(32/50；%)表现为严重的新生儿肝损害，7例(1.4%)有阿尔珀斯综合征，11例(22%)有不同形式的神经损害。在32例肝脏受累患者中，11例可检测到脱氧鸟苷激酶或聚合酶γ(Polg)突变，7例Alpers综合征患者均可检测到Polg基因突变。结论线粒体DNA缺失是婴幼儿多重呼吸链缺陷的常见原因之一。
Objective To determine the actual incidence of mitochondrial DNA (mtDNA) depletion syndrome in multiple respiratory chain deficiency.Study design We carried out a real-time polymerase chain reaction quantification of mtDNA in liver or muscle tissue of 100 children with unexplained multiple oxidative phosphorylation enzyme deficiency.Results A reduction of mtDNA copy number to < 35% of control values was found in liver and/or muscle in half of the children (50/100). Most of these patients (32/50; 64%) presented with severe neonatal onset liver involvement; 7 (1.4%) had Alpers syndrome, and 11 (22%) exhibited various forms of neurologic involvement. Deoxyguanosine kinase or polymerase gamma (POLG) mutations could be identified in 11 of 32 patients with liver involvement, and POLG imitations were consistently found in all 7 patients with Alpers syndrome. Homozygous thymidine kinase 2 and MPV17 gene mutations were found in 2 patients.Conclusions Our findings show that mtDNA depletion is a prevalent cause of multiple respiratory chain deficiency ill infancy.