[Research progress in major intrinsic protein genes of congenital cataract].

ABSTRACT

Congenital cataract is a common eye disease that seriously affects the visual development of infants and children. Nearly 30% of cases have cataract-linked, inherited mutations. With the development of molecular genetics, especially gentechnik, more and more genes, such as crystallin genes, membrane protein genes, transcription factors and cytoskeletal protein genes, have been confirmed to be associated with the onset of congenital cataract. There have been many studies on crystallin genes, but studies on the pathogenesis of membrane protein genes have gradually been emphasized as well in recent years. Furthermore, major intrinsic protein (MIP) genes belong to membrane protein genes, and the MIP translated by them accounts for about 50% of the total cell membrane proteins.It has been found that more than twenty mutations in MIP genes participate in the development of congenital cataract. How do these mutations further affect the cellular function and eventually lead to cataract? The recent progression about inherited congenital cataract related with MIP genes at the levels of genes and proteins is summarized in this review. (Chin J Ophthalmol, 2020, 56 386-392).