Neonatal mitochondrial encephaloneuromyopathy due to a defect of mitochondrial protein synthesis.
Mitochondrial diseases are clinically and genetically heterogeneous disorders due to primary mutations in mitochondrial DNA (mtDNA) or nuclear DNA (nDNA). We studied a male infant with severe congenital encephalopathy, peripheral neuropathy, and myopathy. The patient's lactic acidosis and biochemical defects of respiratory chain complexes I, III, and IV in muscle indicated that he had a mitochondrial disorder while parental consanguinity suggested autosomal recessive inheritance. Cultured fibroblasts from the patient showed a generalized defect of mitochondrial protein synthesis. Fusion of cells from the patient with 143B206 rho(0) cells devoid of mtDNA restored cytochrome c oxidase activity confirming the nDNA origin of the disease. Our studies indicate that the patient has a novel autosomal recessive defect of mitochondrial protein synthesis.
Department of Neurology, Columbia University, New York, NY, USA.
Claudia C
CC
Ferreiro-Barros
Célia H
CH
Tengan
Mário H
MH
Barros
Lluis
L
Palenzuela
Chisaka
C
Kanki
Catarina
C
Quinzii
Johanna
J
Lou
Nader
N
El Gharaby
Aly
A
Shokr
Darryl C
DC
De Vivo
Salvatore
S
DiMauro
Michio
M
Hirano
D002478:Cells, Cultured; D003576:Electron Transport Complex IV / Q000235:genetics / Q000378:metabolism; D005347:Fibroblasts / Q000378:metabolism / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D017237:Mitochondrial Encephalomyopathies / Q000209:etiology* / Q000473:pathology; D024101:Mitochondrial Proteins / Q000172:deficiency*; D009097:Multienzyme Complexes / Q000235:genetics / Q000378:metabolism; D013385:Succinate Dehydrogenase / Q000235:genetics / Q000378:metabolism
D024101:Mitochondrial Proteins; D009097:Multienzyme Complexes; D013385:Succinate Dehydrogenase; D003576:Electron Transport Complex IV