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Author Spotlight: Bidirectional Mitochondrial Transfer between MSCs and Retinal Pigment Epithelium Cells — Pathways and In Vivo Challenges
Published on: October 4, 2024
Mitochondrial transfer RNA variants and primary congenital glaucoma
Quan-Yong Yi1,2, Gang Deng3, Hong-Jian Zhou2
1a Department of Ophthalmology , Xiangya NO 2 Hospital of Central South University , Changsha , P.R. China .
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.
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