Those results prove that expression of the actual mutant protein is beneficial in reproducing USH2A retinal phenotype and offers insight into strategies for designing therapeutic interventions.Īn in-depth analysis of the retina in the model revealed structural anomalies in the photoreceptors ultimately leading to the death of the photoreceptor cells causing vision loss. The degeneration is associated with a decline in retinal function, structural abnormalities in connecting cilium and outer segment and mislocalization of the usherin interacting partners - very long G-protein receptor 1 (VLGR1) and whirlin (WHRN).” “The model exhibits retinal degeneration and expresses a truncated, glycosylated protein which is mislocalized to the photoreceptor inner segment. Dunn Endowed Professor of Biomedical Engineering. “In our study, published in Nature Communications, we designed and generated a model expressing c.2299delG, the most common human disease mutation in USH2A,” reports Muna Naash, John S. Most Usher syndrome models successfully reproduce the hearing loss observed in patients but fail to model the visual problems.
Currently no treatment exists for USH2A.Īlso, no study has come close to examining the actual mechanics behind the illness, until now – even though e stablishing a model for USH2A that mirrors patient’s phenotypes has been an important goal for the future development of therapeutic strategies. RP affects the retina, the eye’s light-sensitive layer, leading to a breakdown of the light-sensitive cells in the retina which initially leads to night blindness followed by progressive loss of daily vision. USH2A, caused by mutations in the USH2A gene, can include hearing loss from birth and progressive loss of vision, prompting retinitis pigmentosa (RP). Usher syndrome, a rare inherited genetic disease, is a leading cause of combined deafness and blindness with type 2A (USH2A) being the most common form. Dunn Endowed Professor of Biomedical Engineering, is reporting a new model of Usher Syndrome that includes its mutant protein and helps understand the disease.
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