Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0086543 (cataract)
 29,165 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Rupture of lens cataract (RLC) in the mouse is a spontaneous mutation inherited by a single autosomal recessive gene mapped on chromosome 14. Fine mapping of the mutant locus revealed a nucleotide deletion of 27-bp at the end of 15th exon of Dock5 (Dedicator of cytokinesis-5), a member of the Dock gene superfamily. Since the deletion occurred in-frame, the RLC-DOCK5 protein had a deletion of 9 amino acids (a.a. 506-514) in the DHR1 (DOCK homology region-1) domain that is essential for DOCK5, a GTP-exchanger for Rac1. Although Dock5 mRNA was intensely expressed equally in mutant and wild-type lenses, DOCK5 protein was hardly detectable in the mutant lens. In contrast, expression of Dock180, another member of Dock subfamily A, was not affected in RLC. Immunohistochemically, DOCK5 was stained intensely in the cytoplasm of the anterior epithelial cells and weakly in lens fiber of the wild type lenses, but little in RLC lens. These observations suggest that the mutation may somehow destabilize DOCK5 protein. We propose to designate the mutant allele of rlc as Dock5rlc. Relevance of the signaling pathway involving DOCK5-RAC1 in maintenance of lens integrity of growing lens is discussed.
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PMID:Mutation of Dock5, a member of the guanine exchange factor Dock180 superfamily, in the rupture of lens cataract mouse. 1839 77

Cataract is a main cause of blindness worldwide. RAC1 has been reported to have a close relationship with the proliferation and migration of cells. However, the relationship between RAC1 and cataract is not yet clear. The proliferation and migration of lens epithelial cells are key factors in the formation of cataract as well as in the complication of cataract surgery. In this study, the effect of RAC1 overexpression on the proliferation and migration of lens epithelial cells was explored. Results showed that RAC1 overexpression promoted the proliferation of lens epithelial cells and increased the protein level of proliferating cell nuclear antigen. RAC1 overexpression also promoted migration and invasion of lens epithelial cells and had an influence on the epithelial-mesenchymal transition process. These results indicate that RAC1 may become a therapeutic target of cataract and inhibition of RAC1 may become a promising way for the therapy of cataract.
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PMID:RAC1 overexpression promotes the proliferation, migration and epithelial-mesenchymal transition of lens epithelial cells. 2661 87