mitochondrial protein synthesis
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#