Ultrastructure and crystallin mutant molecular modeling of hereditary coralliform cataract.
- Author:
Wei-zhen XU
1
;
Shu ZHENG
;
Qi DONG
;
Shan-rong CAI
;
Ke YAO
;
Su-zhan ZHANG
Author Information
- Publication Type:Journal Article
- MeSH: Cataract; congenital; genetics; pathology; Female; Humans; Lens, Crystalline; ultrastructure; Male; Pedigree; Phenotype; Point Mutation; gamma-Crystallins; genetics
- From: Journal of Zhejiang University. Medical sciences 2005;34(3):243-247
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo observe the correlation of gammaD-crystallin P23T mutant with lens ultrastructure of the hereditary coralliform cataract.
METHODSComplete ophthalmologic examinations were performed before lens extraction and lens samples were studied by transmission and scanning electric microscope respectively. Protein molecular modeling was performed using SWISS-MODEL(version 2.0).
RESULTSProtein structure modeling demonstrated that the mutant caused a decrease in molecular final total energy and changes in the surface structure of gammaD-crystallin. Ultrastructure study revealed crystals deposited in lens, extensive granules dispersed in uncommon oval structure and the disorganization of lens epithelial cells.
CONCLUSIONIt is possible that the gammaD-crystallin P23T mutant is associated with abnormal crystals in lens and disorganization of lens epithelial cells.
