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 structure/function relationships of tRNAs. This includes several lines of research, namely (i) investigation of human mitochrondrial tRNA structures, (ii) comparison of disease-related and polymorphic mutations at a theoretical level, and (iii) experimental investigations of affected tRNAs in the frame of mitochondrial protein synthesis. A new approach aimed at searching for long-range effects of mitochondrial tRNA mutations on a broader global mitochondrial level will also be presented. Initial results obtained by comparative mitochondrial proteomics turn out to be very promising for deciphering unexpected molecular partners involved in the pathological status of the mitochondria.
Skip Nav Destination
Article navigation
Research Article|
February 01 2002
Molecular Investigations on tRNAs Involved in Human Mitochondrial Disorders
Catherine Florentz
Catherine Florentz
1Département Mécanismes et Macromolécules de la Synthèse Protéique et Cristallogenèse, Institut de Biologie Moléculaire et Cellulaire du CNRS, UPR 9002 du CNRS, 15, rue René Descartes, 67084 Strasbourg Cedex, France
Search for other works by this author on:
Publisher: Portland Press Ltd
Online ISSN: 1573-4935
Print ISSN: 0144-8463
© 2002 Plenum Publishing Corporation
2002
Biosci Rep (2002) 22 (1): 81–98.
Citation
Catherine Florentz; Molecular Investigations on tRNAs Involved in Human Mitochondrial Disorders. Biosci Rep 1 February 2002; 22 (1): 81–98. doi: https://doi.org/10.1023/A:1016065107165
Download citation file:
Sign in
Don't already have an account? Register
Sign in to your personal account
You could not be signed in. Please check your email address / username and password and try again.
Captcha Validation Error. Please try again.