Home > A. Molecular pathology > aminoacyl-tRNA synthetases
aminoacyl-tRNA synthetases
Sunday 13 July 2003
Definition: Aminoacyl-tRNA synthetases attach aminoacids to their cognate tRNA.
Functions
Aminoacyl-tRNA synthetases attach aminoacids to their cognate tRNA.
Aminoacyl-tRNA synthetases perform an essential function in protein synthesis by catalyzing the esterification of an amino acid to its cognate tRNA. These enzymes are necessarily present in each cell and must properly recognize the tRNA and the amino acid in order to maintain fidelity of translation.
From the primary structures, 2 distinct classes of synthetases have been recognized, with similarity of certain structural features, amino acid attachment sites, and other properties between members of a class.
Pathology
mitochondrial traduction anomalies
auto-immunity
- Certain aminoacyl-tRNA synthetases are autoantigens in patients with the idiopathic inflammatory myopathies, polymyositis, and dermatomyositis.
- Autoantibodies reactive with synthetases are found almost exclusively in these conditions, with individuals usually having autoantibodies to only a single synthetase.
- Most commonly they are directed at histidyl-tRNA synthetase (MIM.142810), labeled ’anti-Jo-1’ autoantibodies.
Pathology
glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D (CMT2D) and distal spinal muscular atrophy type V (12690580)
References
Dubourg, O.; Azzedine, H.; Ben Yaou, R.; Pouget, J.; Barois, A.; Meininger, V.; Bouteiller, D.; Ruberg, M.; Brice, A.; LeGuern, E. : The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V. Neurology 66: 1721-1726, 2006. PubMed ID : 16769947
Antonellis, A.; Ellsworth, R. E.; Sambuughin, N.; Puls, I.; Abel, A.; Lee-Lin, S.-Q.; Jordanova, A.; Kremensky, I.; Christodoulou, K.; Middleton, L. T.; Sivakumar, K.; Ionasescu, V.; Funalot, B.; Vance, J. M.; Goldfarb, L. G.; Fischbeck, K. H.; Green, E. D. :
Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am. J. Hum. Genet. 72: 1293-1299, 2003. PubMed ID : 12690580
