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Nuclear genes and mitochondrial translation: A new class of genetic disease

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.

Publication metadata

Author(s): Jacobs HT, Turnbull DM

Publication type: Note

Publication status: Published

Journal: Trends in Genetics

Year: 2005

Volume: 21

Issue: 6

Pages: 312-314

ISSN (print): 0168-9525

ISSN (electronic): 1362-4555


DOI: 10.1016/j.tig.2005.04.003

PubMed id: 15922826