No association between mitochondrial tRNA^Val T1658C mutation and chronic progressive external ophthalmoplegia (CPEO)

Abstract

Mutations in mitochondrial tRNA genes are one of the most important causes of mitochondrial diseases. Recently, a novel mt-tRNA^Val 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 tRNA^Val with and without this mutation. Surprisingly, T1658C mutation was not evolutionary conserved and had little effect on tRNA^Val folding. These data indicated that T1658C mutation should still be categorized as a polymorphism.

• Mitochondrial tRNA
• mutation
• pathogenic

Declarations of interest

The authors report no conflict of interest. The authors alone are responsible for the content and writing of the article.