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. (C) 2008 Elsevier B.V. All rights reserved.

National Institutes of Health (NIH)[NS11766]

U.S. National Institutes of Health (NIH)

National Institutes of Health (NIH)[HD32062]

U.S. National Institutes of Health (NIH)

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

FAPESP

CNPq

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Marriott Mitochondrial Disorders Clinical Research Fund

Marriott Mitochondrial Disorders Clinical Research Fund