title: Mutations in ND subunits of complex I are an important genetic cause of childhood mitochondrial encephalopathies.
abstract: 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.
authors.affiliation: Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Byung Chan
authors.initials: BC
authors.lastname: Lim
authors.forename: Jun Dong
authors.initials: JD
authors.lastname: Park
authors.forename: Hee
authors.initials: H
authors.lastname: Hwang
authors.forename: Ki Joong
authors.initials: KJ
authors.lastname: Kim
authors.forename: Yong Seung
authors.initials: YS
authors.lastname: Hwang
authors.forename: Jong-Hee
authors.initials: JH
authors.lastname: Chae
authors.forename: Jung-Eun
authors.initials: JE
authors.lastname: Cheon
authors.forename: In One
authors.initials: IO
authors.lastname: Kim
authors.forename: Ran
authors.initials: R
authors.lastname: Lee
authors.forename: Han Ku
authors.initials: HK
authors.lastname: Moon
mesh_terms: D000140:Acidosis, Lactic / Q000235:genetics / Q000473:pathology; D001921:Brain / Q000473:pathology; D001928:Brain Diseases, Metabolic / Q000235:genetics* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D004272:DNA, Mitochondrial / Q000235:genetics*; D042967:Electron Transport Complex I / Q000235:genetics*; D005260:Female; D006801:Humans; D007888:Leigh Disease / Q000235:genetics / Q000473:pathology; D017241:MELAS Syndrome / Q000235:genetics / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D028361:Mitochondrial Diseases / Q000235:genetics* / Q000473:pathology; D017237:Mitochondrial Encephalomyopathies / Q000235:genetics / Q000473:pathology; D024101:Mitochondrial Proteins / Q000235:genetics*; D020125:Mutation, Missense; D017422:Sequence Analysis, DNA
chemical_list: D004272:DNA, Mitochondrial; D024101:Mitochondrial Proteins; C481838:MT-ND5 protein, human; D042967:Electron Transport Complex I; C114961:MT-ND3 protein, human