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Lookup NU author(s): Emeritus Professor Doug Turnbull
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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. © 2005 Elsevier Ltd. All rights reserved.
Author(s): Jacobs HT, Turnbull DM
Publication type: Note
Publication status: Published
Journal: Trends in Genetics
ISSN (print): 0168-9525
ISSN (electronic): 1362-4555
PubMed id: 15922826