Artículos de revistas
Neonatal mitochondrial encephaloneuromyopathy due to a defect of mitochondrial protein synthesis
Fecha
2008Registro en:
JOURNAL OF THE NEUROLOGICAL SCIENCES, v.275, n.1/Fev, p.128-132, 2008
0022-510X
10.1016/j.jns.2008.08.028
Autor
FERREIRO-BARROS, Claudia C.
TENGAN, Celia H.
BARROS, Mario H.
PALENZUELA, Lluis
KANKI, Chisaka
QUINZII, Catarina
LOU, Johanna
GHARABY, Nader El
SHOKR, Aly
VIVO, Darryl C. De
DIMAURO, Salvatore
HIRANO, Michio
Institución
Resumen
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. (C) 2008 Elsevier B.V. All rights reserved.