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#