Molecular genetic and clinical aspects of mitochondrial disorders in childhood.
Mitochondrial OXPHOS disorders are caused by mutations in mitochondrial or nuclear genes, which directly or indirectly affect mitochondrial oxidative phosphorylation (OXPHOS). Primary mtDNA abnormalities in children are due to rearrangements (deletions or duplications) and point mutations or insertions. Mutations in the nuclear-encoded polypeptide subunits of OXPHOS result in complex I and II deficiency, whereas mutations in the nuclear proteins involved in the assembly of OXPHOS subunits cause defects in complexes I, III, IV, and V. Here, we review recent progress in the identification of mitochondrial and nuclear gene defects and the associated clinical manifestations of these disorders in childhood.
Moslemi
Ali-Reza
AR
Department of Pathology, Göteborg University, Sahlgrenska University Hospital, SE-413 45 Göteborg, Sweden. ali-reza.moslemi@pathology.gu.se
Darin
Niklas
N
D002648:Child; D004272:DNA, Mitochondrial / Q000235:genetics; D006801:Humans; D028361:Mitochondrial Diseases / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D009154:Mutation / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D021122:Protein Subunits / Q000235:genetics
D004272:DNA, Mitochondrial; D009687:Nuclear Proteins; D021122:Protein Subunits