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Trends Genet. 2005 Jun;21(6):312-4.

Nuclear genes and mitochondrial translation: a new class of genetic disease.

Author information

1
Institute of Medical Technology and Tampere University Hospital, FI-33014 University of Tampere, Finland. howard.t.jacobs@uta.fi

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.

PMID:
15922826
DOI:
10.1016/j.tig.2005.04.003
[Indexed for MEDLINE]
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