Article
Cataract-causing mutation R48C increases γA-crystallin susceptibility to oxidative stress and ultraviolet radiation.
International journal of biological macromolecules - 1 Jan 2022
Wu Jing, Xu Wanyue, Wu Wei, Xu Jingjie, Zheng Sifan, Shentu Xingchao, Chen Xiangjun
Abstract excerpt
Among all congenital cataracts caused by genetic mutations, approximately half are caused by a mutation in crystallin genes, and accounts the leading cause of blindness in children globally. In this study, we investigated the underlying molecular mechanism of R48C mutation (c.142C > T; p.[Arg48Cys]) of γA-crystallin in a Mexican-Mestizo descent family causing congenital cataracts. We purified γA-crystallin...
Topics
- Cataract
- Humans
- Mutation
- Oxidative Stress
- Ultraviolet Rays
- gamma-Crystallins