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Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation
Author(s) -
Miller Chaya,
Saada Ann,
Shaul Nava,
Shabtai Naama,
BenShalom Efrat,
Shaag Avraham,
Hershkovitz Eli,
Elpeleg Orly
Publication year - 2004
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.20282
Subject(s) - mitochondrial dna , biology , nonsense mutation , lactic acidosis , translation (biology) , genetics , mitochondrion , mutation , mitochondrial disease , mt rnr1 , mitochondrial respiratory chain , gene , respiratory chain , mitochondrial ribosome , microbiology and biotechnology , ribosome , biochemistry , rna , missense mutation , messenger rna
The mitochondrial respiratory chain comprises 85 subunits, 13 of which are mitochondrial encoded. The synthesis of these 13 proteins requires many nuclear‐encoded proteins that participate in mitochondrial DNA replication, transcript production, and a distinctive mitochondrial translation apparatus. We report a patient with agenesis of corpus callosum, dysmorphism, and fatal neonatal lactic acidosis with markedly decreased complex I and IV activity in muscle and liver and a generalized mitochondrial translation defect identified in pulse‐label experiments. The defect was associated with marked reduction of the 12S rRNA transcript level likely attributed to a nonsense mutation in the MRPS16 gene. A new group of mitochondrial respiratory chain disorders is proposed, resulting from mutations in nuclear encoded components of the mitochondrial translation apparatus. Ann Neurol 2004;56:734–738