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Abstract #68573 Published in IGR 18-1
Mitochondrial transfer RNA variants and primary congenital glaucoma
Yi QY; Deng G; Zhou HJ; Wu GH; Tang LMitochondrial DNA. Part A, DNA mapping, sequencing, and analysis 2016; 27: 2405-2407
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.
Full article
Classification:
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
9.1.1 Congenital glaucoma, Buphthalmos (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
3.5 Molecular biology incl. SiRNA (Part of: 3 Laboratory methods)
