[Research progress in relative crystallin genes of congenital cataract]

Zhonghua Yan Ke Za Zhi. 2016 Feb;52(2):141-9. doi: 10.3760/cma.j.issn.0412-4081.2016.02.016.
[Article in Chinese]

Abstract

Congenital cataract is the common cause of visual disability in children. Nearly one third of congenital cataract cases may have a related genetic mutation. With the development of molecular genetics, especially gentechnik, more and more genes, such as crystallin genes, membrane protein genes, eytoskeletal protein genes and regulatory protein genes have been confirmed to participate in the process of congenital cataract. Furthermore, crystallin genes account for most of these genes and the crystallin has the highest amount of the whole protein in lens.It has been found that nearly one hundred mutations in crystallin genes are associated with the onset of congenital cataract. Researchers are exploring how these mutations further affect the function of cellular biology and eventually lead to cataract. Although more and more research results gradually reveal the pathogenesis of congenital cataract from the level of gene and protein, the specific pathogenesis is still unclear. The recent progression about inherited congenital cataract related with crysallin genes is summarized in this review.

Publication types

  • Review

MeSH terms

  • Biomedical Research*
  • Cataract / congenital*
  • Cataract / genetics*
  • Child
  • Crystallins / genetics*
  • Humans
  • Lens, Crystalline / chemistry*
  • Mutation*

Substances

  • Crystallins