Mitochondrial tRNA Mutations: Clinical and Functional Perturbations

  title={Mitochondrial tRNA Mutations: Clinical and Functional Perturbations},
  author={Emily Zifa and Stamatina Giannouli and Paschalis Theotokis and Costas Stamatis and Zissis Mamuris and Constantinos Stathopoulos},
  journal={RNA Biology},
  pages={38 - 66}
During the last decade, there has been a progressive accumulation of reports that connect the identification of specific mitochondrial tRNA gene mutations to severe disorders in human. As a result, mitochondrial tRNA genes and their products have emerged as novel and essential molecular markers for wide biochemical and genetic screenings among different human populations. So far, 139 pathogenic and 243 polymorphic mt tRNA mutations have been described and they have become the foreground of… 

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Mitochondrial disorders.

  • M. Zeviani
  • Biology, Medicine
    Supplements to Clinical neurophysiology
  • 2004
An increasing number of nuclear disease genes have been discovered in association with syndromes caused by oxidative phosphorylation failure and provide both diagnostic tools and new pathogenetic insights in a rapidly expanding area of neurogenetics.

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Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders.

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Tissue dependent co-segregation of the novel pathogenic G12276A mitochondrial tRNALeu(CUN) mutation with the A185G D-loop polymorphism

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A tRNAAla mutation causing mitochondrial myopathy clinically resembling myotonic dystrophy

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Mitochondria1 encephalomyopathy associated with a single nucleotide pair deletion in the mitochondrial tRNALeu(UUR) gene

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Analysis of mitochondrial proteins from sibling cybrid cell lines reveals a linkage between the effects of mutations in mitochondrial tRNA genes and the steady-state level of nuclear-encoded proteins in mitochondria, which opens new routes toward a large-scale exploration of potential proteic partners involved in the genotype-phenotype correlation of mitochondrial disorders.

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