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mitochondrial protein synthesis

Thursday 20 November 2003

Pathology (mitochondrial protein synthesis disorders)

Mitochondrial tRNA gene mutations, including heteroplasmic deletions that eliminate one or more tRNAs, as well as point mutations that may be either hetero- or homoplasmic, are associated with a wide spectrum of human diseases.

- sensorineural deafness
- cardiomyopathy
- cardiomyopathy resulting from tRNAIle defects
- MERFF-like disease from tRNALys defects

Molecular mechanisms associated with these mutations

- loss of translational function of the affected tRNA(s)
- impaired pre-tRNA processing
- half-life
- base-modification
- aminoacylation

References

- Taylor RW, Turnbull DM. Mitochondrial DNA mutations in human disease. Nat Rev Genet. 2005 May;6(5):389-402. PMID: 15861210

- Jacobs HT. Disorders of mitochondrial protein synthesis. Hum Mol Genet. 2003 Oct 15;12 Spec No 2:R293-301. PMID: 12928485