Mutation of the TRPM3 cation channel underlies progressive cataract development and lens calcification associated with pro-fibrotic and immune cell responses.

ABSTRACT: Transient-receptor-potential cation channel, subfamily M, member 3 (TRPM3) serves as a polymodal calcium sensor in diverse mammalian cell-types. Mutation of the human TRPM3 gene (TRPM3) has been linked with inherited forms of early-onset cataract with or without other eye abnormalities. Here, we have characterized the ocular phenotypes of germline "knock-in" mice that harbor a human cataract-associated isoleucine-to-methionine mutation (p.I65M) in TRPM3 (Trpm3-mutant) compared with germline "knock-out" mice that functionally lack TRPM3 (Trpm3-null). Despite strong expression of Trpm3 in lens epithelial cells, neither heterozygous (Trpm3^+/- ) nor homozygous (Trpm3^-/- ) Trpm3-null mice developed cataract; however, the latter exhibited a mild impairment of lens growth. I

SUBMITTER: Zhou Y 

PROVIDER: S-EPMC7891105 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature