March 3, 2020

Nr2e3 is a genetic modifier that rescues retinal degeneration and promotes homeostasis in multiple models of retinitis pigmentosa

In this study, a nuclear hormone receptor (NHR, a type of protein) gene Nr2e3 was tested as a possible general therapy to reduce the effects of early to intermediate stages of retinal degeneration in five mouse models of retinitis pigmentosa (RP). RP is associated with more than 150 gene mutations. About 40% of RP patients cannot be genetically diagnosed, which makes it difficult to create targeted therapies. Using Nr2e3 administered therapy, researchers found reduced retinal degeneration. Although mutations caused by different genes can cause RP, this study demonstrates that a single gene like Nr2e3 can help alleviate disease outcomes caused by these different mutations.

What this means for Usher syndrome: Vision loss in Usher syndrome is a type of RP. This research suggests that Nr2e3 may be able to alleviate some of the symptoms of early to intermediate stages of retinal degeneration for all types of USH. More research needs to be done, but this could be a future therapy used for USH.

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