Mutations in VWA8 cause autosomal-dominant retinitis pigmentosa via aberrant mitophagy activation

Retinitis pigmentosa (RP) is the most common hereditary retinal dystrophy. This study identified variant c.3070G>A;c.4558C>T (p.Gly1024Arg; p.Arg1520Ter) in VWA8 which is linked to retinal diseases from a four generation Chinese family with autosomal dominant retinitis pigmentosa. Then this study showed that the VWA8 variant can induce mitochondrial defects, resulting in the activation of mitophagy and apoptosis, and consequently in RPE cell death. All results suggested VWA8 could be a key molecule for RP prenatal screening and a potential therapeutic target for RP treatment. (By Dr. Zhengwei Yuan, https://jmg.bmj.com/content/early/2023/04/02/jmg-2022-108888 )

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