title: Evidence in a lethal infantile mitochondrial disease for a nuclear mutation affecting respiratory complexes I and IV.
abstract: A child died at 4 months of age of a lethal infantile mitochondrial disease associated with cardiomyopathy. Detailed pathologic evaluation of this patient revealed abnormalities in the striated muscle, smooth muscle, heart, and liver, but not the central nervous system. Biochemical analysis revealed a combined complex I and IV deficiency in skeletal muscle, heart, and liver, but not in kidney and brain. Analysis of mitochondrial translation products and mitochondrial DNA failed to detect any abnormality. Parallel studies on both parents were uniformly normal. These data support the hypothesis that this disease was the result of a nuclear DNA mutation in a developmental stage-specific and tissue-specific oxidative phosphorylation-gene.
authors.affiliation: Department of Biochemistry, Emory University School of Medicine, Atlanta, GA 30322.
authors.forename: X
authors.initials: X
authors.lastname: Zheng
authors.forename: J M
authors.initials: JM
authors.lastname: Shoffner
authors.forename: M T
authors.initials: MT
authors.lastname: Lott
authors.forename: A S
authors.initials: AS
authors.lastname: Voljavec
authors.forename: N S
authors.initials: NS
authors.lastname: Krawiecki
authors.forename: K
authors.initials: K
authors.lastname: Winn
authors.forename: D C
authors.initials: DC
authors.lastname: Wallace
mesh_terms: D009202:Cardiomyopathies / Q000150:complications / Q000473:pathology; D002467:Cell Nucleus / Q000502:physiology; D002493:Central Nervous System Diseases / Q000235:genetics* / Q000401:mortality / Q000473:pathology; D030401:Cytochrome-c Oxidase Deficiency; D004247:DNA / Q000235:genetics; D003576:Electron Transport Complex IV / Q000235:genetics*; D005796:Genes; D006651:Histocytochemistry; D006801:Humans; D007223:Infant; D008099:Liver / Q000201:enzymology; D008297:Male; D008854:Microscopy, Electron; D008928:Mitochondria / Q000502:physiology / Q000648:ultrastructure; D009132:Muscles / Q000201:enzymology; D009154:Mutation; D009206:Myocardium / Q000201:enzymology; D016660:NAD(P)H Dehydrogenase (Quinone); D010084:Oxidation-Reduction; D010766:Phosphorylation; D014176:Protein Biosynthesis; D011808:Quinone Reductases / Q000172:deficiency / Q000235:genetics*
chemical_list: D004247:DNA; D016660:NAD(P)H Dehydrogenase (Quinone); D011808:Quinone Reductases; D003576:Electron Transport Complex IV