No association between mitochondrial tRNAVal T1658C mutation and chronic progressive external ophthalmoplegia (CPEO)

AbstractMutations in mitochondrial tRNA genes are one of the most important causes of mitochondrial diseases. Recently, a novel mt-tRNAVal T1658C mutation has been reported to be associated with chronic progressive external ophthalmoplegia (CPEO). To test this association, we performed a phylogenetic analysis of T1658C mutation, moreover, we used the bioinformatic tool to predict the thermodynamic change of tRNAVal with and without this mutation. Surprisingly, T1658C mutation was not evolutionary conserved and had little effect on tRNAVal folding. These data indicated that T1658C mutation should still be categorized as a polymorphism.