Neonatal mitochondrial encephaloneuromyopathy due to a defect of mitochondrial protein synthesis

JOURNAL OF THE NEUROLOGICAL SCIENCES

卷:275

Article

Ferreiro-Barros, Claudia C.²  Tengan, Celia H.²  Barros, Mario H.³  El Gharaby, Nader⁴  Shokr, Aly⁴  Hirano, Michio¹ 

[1] Columbia Univ, Med Ctr, Dept Neurol, New York, NY 10027 USA

[2] Univ Fed Sao Paulo, Dept Neurol, Sao Paulo, Brazil

[3] Univ Sao Paulo, Dept Microbiol, Sao Paulo, Brazil

[4] Bugshan Gen Hosp, Dept Pediat, Jeddah, Saudi Arabia

关键词: Mitochondria;    Protein synthesis;    Autosomal recessive;    Mitochondrial disease;    Respiratory chain;   

DOI  :  10.1016/j.jns.2008.08.028

来源: Elsevier

【 摘 要 】

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.

【 授权许可】

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