title: Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation.
abstract: 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.
authors.affiliation: Metabolic Disease Unit, Shaare-Zedek Medical Center, Jerusalem, Israel.
authors.forename: Chaya
authors.initials: C
authors.lastname: Miller
authors.forename: Ann
authors.initials: A
authors.lastname: Saada
authors.forename: Nava
authors.initials: N
authors.lastname: Shaul
authors.forename: Naama
authors.initials: N
authors.lastname: Shabtai
authors.forename: Efrat
authors.initials: E
authors.lastname: Ben-Shalom
authors.forename: Avraham
authors.initials: A
authors.lastname: Shaag
authors.forename: Eli
authors.initials: E
authors.lastname: Hershkovitz
authors.forename: Orly
authors.initials: O
authors.lastname: Elpeleg
mesh_terms: D019883:Alkyl and Aryl Transferases / Q000235:genetics / Q000378:metabolism; D015152:Blotting, Northern / Q000379:methods; D004252:DNA Mutational Analysis / Q000379:methods; D004272:DNA, Mitochondrial / Q000235:genetics* / Q000378:metabolism; D003576:Electron Transport Complex IV; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D007231:Infant, Newborn; D008565:Membrane Proteins / Q000235:genetics / Q000378:metabolism; D028361:Mitochondrial Diseases / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D012335:RNA, Ribosomal / Q000235:genetics / Q000378:metabolism; D012269:Ribosomal Proteins / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial; D008565:Membrane Proteins; D012335:RNA, Ribosomal; C075526:RNA, ribosomal, 12S; D012269:Ribosomal Proteins; C490115:COX10 protein, human; D003576:Electron Transport Complex IV; D019883:Alkyl and Aryl Transferases