title: Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation.
abstract: Complex I deficiency is the most common respiratory chain defect, clinically manifesting by severe neonatal lactic acidosis, Leigh's disease, or various combinations of cardiac, hepatic, and renal disorders. Using homozygosity mapping, we identified a splice-site mutation in the NDUFA11 gene in six patients from three unrelated families. The patients presented with encephalocardiomyopathy or fatal infantile lactic acidemia. The mutation is predicted to abolish the first transmembrane domain of the gene product, thereby destabilizing the enzymatic complex. Mutation analysis of the NDUFA11 is warranted in isolated complex I deficiency presenting with infantile lactic acidemia or encephalocardiomyopathy.
authors.affiliation: Pediatric Neurology Unit, Hadassah-Hebrew University Medical Center, Jerusalem.
authors.forename: Itai
authors.initials: I
authors.lastname: Berger
authors.forename: Eli
authors.initials: E
authors.lastname: Hershkovitz
authors.forename: Avraham
authors.initials: A
authors.lastname: Shaag
authors.forename: Simon
authors.initials: S
authors.lastname: Edvardson
authors.forename: Ann
authors.initials: A
authors.lastname: Saada
authors.forename: Orly
authors.initials: O
authors.lastname: Elpeleg
mesh_terms: D000595:Amino Acid Sequence; D042967:Electron Transport Complex I / Q000172:deficiency* / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007888:Leigh Disease / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics; D008297:Male; D028361:Mitochondrial Diseases / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D024101:Mitochondrial Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D016660:NAD(P)H Dehydrogenase (Quinone) / Q000235:genetics; D010375:Pedigree; D021122:Protein Subunits / Q000235:genetics
chemical_list: D024101:Mitochondrial Proteins; C528082:NDUFA11 protein, human; D021122:Protein Subunits; D016660:NAD(P)H Dehydrogenase (Quinone); D042967:Electron Transport Complex I