title: Nuclear genes and mitochondrial translation: a new class of genetic disease.
abstract: Mitochondria contain a separate protein-synthesis machinery to produce the polypeptides encoded in mitochondrial DNA (mtDNA), and many mtDNA disease mutations affect this machinery. In humans, the mitochondrial rRNAs and tRNAs are encoded by mtDNA, whereas all proteins involved in mitochondrial translation are encoded by nuclear genes. Recently, several articles have discussed the identification of pathological mutations in nuclear genes encoding components of this protein-synthesis machinery, suggesting that these types of mutation are a frequent cause of human genetic diseases.
authors.affiliation: Institute of Medical Technology and Tampere University Hospital, FI-33014 University of Tampere, Finland. howard.t.jacobs@uta.fi
authors.forename: Howard T
authors.initials: HT
authors.lastname: Jacobs
authors.forename: Douglass M
authors.initials: DM
authors.lastname: Turnbull
mesh_terms: D002467:Cell Nucleus / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics*; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006801:Humans; D008928:Mitochondria / Q000235:genetics* / Q000378:metabolism; D028361:Mitochondrial Diseases / Q000235:genetics*; D024101:Mitochondrial Proteins / Q000235:genetics; D009154:Mutation; D014176:Protein Biosynthesis; D012313:RNA / Q000235:genetics*; D000077278:RNA, Mitochondrial; D012335:RNA, Ribosomal / Q000235:genetics; D012343:RNA, Transfer / Q000235:genetics; D012270:Ribosomes / Q000235:genetics
chemical_list: D004272:DNA, Mitochondrial; D024101:Mitochondrial Proteins; D000077278:RNA, Mitochondrial; D012335:RNA, Ribosomal; D012313:RNA; D012343:RNA, Transfer