Molecular Investigations on tRNAs Involved in Human Mitochondrial Disorders

@article{Florentz2002MolecularIO,
  title={Molecular Investigations on tRNAs Involved in Human Mitochondrial Disorders},
  author={Catherine Florentz},
  journal={Bioscience Reports},
  year={2002},
  volume={22},
  pages={81-98}
}
  • C. Florentz
  • Published 1 February 2002
  • Biology
  • Bioscience Reports
Over the last decade, human neurodegenerative disorders which correlate with point mutations in mitochondrial tRNA genes became more and more numerous. Both the number of mutations (more than 70) and the variety of phenotypes (cardiopathies, myopathies, encephalopathies as well as diabetes, deafness or others) render the understanding of the genotype/phenotype relationships very complex. Here we first summarize the efforts undertaken to decipher the initial impact of various mutations on the… 
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Evolution Meets Disease: Penetrance and Functional Epistasis of Mitochondrial tRNA Mutations

It is proposed that both the nature of the pathogenic mechanism combined with the existence of a compensatory mechanism can explain the penetrance pattern of this mutation, which can allow a scenario for the evolution of mitochondrial tRNAs in which the fixation of two alleles that are individually deleterious can proceed in two steps and not require the simultaneous mutation of both.

Proteomic Consequences of a Human Mitochondrial tRNA Mutation beyond the Frame of Mitochondrial Translation*

This comparative proteomic approach gives the first insight for nuclear encoded proteins that undergo the largest quantitative changes, and pinpoints new potential molecular partners involved in the cascade of events that connect genotype to phenotype.

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Data suggest that the m.5728A>G transition is a pathogenic mutation and is the cause of the respiratory chain dysfunction in the propositus.

Mutational Screening for Mitochondrial tRNA Genes in 100 Women with Pre-Eclampsia

The data indicated that variants in mt-tRNA genes were the important contributors to PE; screening for mt- tRNA variants was recommended for early detection and prevention of PE.

Genetic, pathogenetic, and phenotypic implications of the mitochondrial A3243G tRNALeu(UUR) mutation

  • J. Finsterer
  • Biology, Medicine
    Acta neurologica Scandinavica
  • 2007
This review aims to give an overview on the actual knowledge about the genetic, pathogenetic, and phenotypic implications of the A3243G mtDNA mutation.

Structural probing of a pathogenic tRNA dimer.

Results indicate that the unique dimeric complex formed by the hs mt tRNALeuUUR A3243G mutant exhibits interesting similarities to biological RNA dimers, and may play a role in the loss of function caused by this mutation in vivo.

Mitochondrial and nuclear gene mutations in the type 2 diabetes patients of Coimbatore population

The results suggest that the T8356C and GLUT1 gene mutations may have an important role in developing late-onset T2D in Coimbatore population, particularly, individuals with GLut1 gene may develop kidney dysfunction at their later age.

SURVEY AND SUMMARY Mitochondrial tRNA 3 0 end metabolism and human disease

Here, the effectiveness and reliability of evidence obtained from reactions with in vitro transcripts that pathogenesis-associated mutant mitochondrial tRNAs can lead to deficiencies in tRNA 3 0 end metabolism (3 0 end cleavage, CCA addition and aminoacylation) are critically reviewed toward an understanding of molecular mechanisms underlying human tRNA disorders.

References

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