Clinical Role of Epigenetics and Network Analysis in Eye Diseases: A Translational Science Review.

摘要: Network medicine is a molecular-bioinformatic approach analyzing gene-gene interactions that can perturb the human interactome. This review focuses on epigenetic changes involved in several ocular diseases, such as DNA methylation, histone and nonhistone post-translational modifications, noncoding RNA regulators. Although aberrant methylation play major role pathogenesis of most modifications are seldom investigated. Hypermethylation TGM-2 hypomethylation MMP-2/CD24 promoter genes may crucial pterygium development; hypermethylation regulatory regions GSTP1 OGG1 appear to be diagnostic biomarkers cataract; TGF-β1 trigger glaucoma onset; LOXL1 gene might associated with pseudoexfoliation syndrome. A large panel upregulated micro-RNAs (miRNAs), including hsa-hsa-miR-494, hsa-let-7e, hsa-miR-513-1, hsa-miR-513-2, hsa-miR-518c, hsa-miR-129-1, hsa-miR-129-2, hsa-miR-198, hsa-miR-492, hsa-miR-498, hsa-miR-320, hsa-miR-503, hsa-miR-373, have putative development retinoblastoma. H3K4 H3K27 at TGFBIp locus pathogenic mechanisms corneal dystrophies. Determining how, where, when specific diseases provide useful clinical for their prevention, diagnosis, management, well innovative drug targets. PF-04523655, 19-nucleotide methylated double-stranded siRNA targeting RTP80 gene, showed dose-related improvement best-corrected visual acuity (BCVA) patients affected by diabetic macular edema. The observed results support network-based research program aimed clarify regulators personalized therapy.