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The Potential Role of Epigenetic Mechanisms in the Development of Retinitis Pigmentosa and Related Photoreceptor Dystrophies.


ABSTRACT: Retinitis pigmentosa and related photoreceptor dystrophies (RPRPD) are rare retinal diseases caused by hereditary gene mutations resulting in photoreceptor death, followed by vision loss. While numerous genes involved in these diseases have been identified, many cases have still not been associated with any gene, indicating that new mechanisms may be involved in the pathogenesis of these photoreceptor dystrophies. Many genes associated with RPRPD regulate photoreceptor specification and maturation in the developing retina. Since retinal development begins with a population of equivalent, proliferating retinal progenitor cells (RPCs) having a specific "competence" in generating all types of retinal neurons, including cone and rod photoreceptors, we tested the epigenetic changes in promoters

SUBMITTER: Dvoriantchikova G 

PROVIDER: S-EPMC8961674 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature