Mitochondrial tRNA mutations and disease

@article{Yarham2010MitochondrialTM,
  title={Mitochondrial tRNA mutations and disease},
  author={John W. Yarham and Joanna L Elson and Emma L Blakely and Robert Mcfarland and Robert W. Taylor},
  journal={Wiley Interdisciplinary Reviews: RNA},
  year={2010},
  volume={1}
}
Mitochondrial (mt‐) tRNA (MTT) gene mutations are an important cause of human morbidity and are associated with a wide range of pathology, from isolated organ‐specific diseases such as myopathy or hearing loss, through to multisystem disorders with encephalopathy, gastrointestinal dysmotility, and life‐threatening cardiomyopathy. Our understanding of how MTT mutations cause disease remains poor and progress has been hampered by the complex interaction of genotype with phenotype that can result… 

Pathogenic Mitochondrial tRNA Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease

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Surprisingly, it is identified that the supplementation of taurine almost completely restored mitochondrial tRNATrp levels and mitochondrial respiration deficiency at the in vitro cell level.

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Mitochondrial DNA sequence context in the penetrance of mitochondrial t-RNA mutations: A study across multiple lineages with diagnostic implications

A number of mutations which appear compensatory and which could prevent the pathogenicity associated with this change in humans are found, which might provide a partial explanation for the conflicting results in the literature that examines the role of mtDNA variants in complex traits.

Mitochondrial DNA variations associated with hypertrophic cardiomyopathy.

Mitochondrial tRNAThr 15891C>G mutation was not associated with Leber’s hereditary optic neuropathy in Han Chinese patients

The role of a point mutation in mt-tRNAThr gene which had been reported to be a mutation associated with LHON is reassessed and the pathogenicity of this mutation has been discussed in this context.
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References

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