Abstract 1993 Relative stability of pathogenic human mitochondrial alanyl-tRNA synthetase mutants

Mitochondrial alanyl-tRNA synthetase (AARS2) is required for translation of mitochondrial proteins in all animals. Mutations in human AARS2 are associated with clinical conditions of varying severities including infantile cardiomyopathy and a variety of neuropathologies. The correlation between a mutation's effect on AARS2 structure or function and the corresponding disease phenotype remains unknown. To gain a better understanding of the basis of these mitochondrial diseases, we are investigating the thermal stability of AARS2 mutants.