Mutations in ND subunits of complex I are an important genetic cause of childhood mitochondrial encephalopathies.
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.
Lim
Byung Chan
BC
Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
Park
Jun Dong
JD
Hwang
Hee
H
Kim
Ki Joong
KJ
Hwang
Yong Seung
YS
Chae
Jong-Hee
JH
Cheon
Jung-Eun
JE
Kim
In One
IO
Lee
Ran
R
Moon
Han Ku
HK
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
D004272:DNA, Mitochondrial; D024101:Mitochondrial Proteins; C481838:MT-ND5 protein, human; D042967:Electron Transport Complex I; C114961:MT-ND3 protein, human