Mitochondrial transfer RNA variants and primary congenital glaucoma

Abstract

Variants in mitochondrial DNA (mtDNA) are the most important causes for vision loss, the mt-tRNA variants being the largest group among them. In this study, we report the molecular characterization of 15 mt-tRNA variants with primary congenital glaucoma (PCG). Based on phylogenetic approach, we found that only half of them were definitely pathogenic with PCG, other mutations were single nucleotide polymorphisms (SNP) in human population. Thus, our study provided novel insight into the pathogenesis of PCG.

• Association study
• mt-tRNA mutations
• primary congenital glaucoma

Declaration of interest

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