Human mitochondrial tRNAs in health and disease |
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Authors: | Email author" target="_blank">C?FlorentzEmail author B?Sohm P?Tryoen-Tóth J?Pütz M?Sissler |
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Institution: | (1) Département Mécanismes et Macromolécules de la Synthèse Protéique et Cristallogenèse, Institut de Biologie Moléculaire et Cellulaire, UPR 9002 du CNRS, 15, rue René Descartes, 67084 Strassbourg Cedex, France |
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Abstract: | The human mitochondrial genome encodes 13 proteins, all subunits of the respiratory chain
complexes and thus involved in energy metabolism. These genes are translated by 22 transfer RNAs
(tRNAs), also encoded by the mitochondrial genome, which form the minimal set required for reading
all codons. Human mitochondrial tRNAs gained interest with the rapid discovery of correlations
between point mutations in their genes and various neuromuscular and neurodegenerative disorders.
In this review, emerging fundamental knowledge on the structure/function relationships of these
particular tRNAs and an overview of the large variety of mechanisms within translation, affected by
mutations, are summarized. Also, initial results on wide-ranging molecular consequences of mutations
outside the frame of mitochondrial translation are highlighted. While knowledge of mitochondrial
tRNAs in both health and disease increases, deciphering the intricate network of events leading
different genotypes to the variety of phenotypes requires further investigation using adapted
model systems.Received 3 December 2002; received after revision 14 January 2003; accepted 27 January 2003 |
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Keywords: | tRNA mutation aminoacylation tranlsation structure proteome neurodegenerative disorders |
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