| 摘要 |
The invention provides a composition comprising SGEF protein or gene as a therapeutic means to clinical or subclinical defects associated with anomalies of at least one from among the macula, corpus callosum, hippocampus, liver or immune system and diseases including a feverless response to infection, a cancer or vision loss. Methods of diagnosis of such disease and development anomalies are based on detection of mutations of the SGEF gene or altered levels of the SGEF mRNA or protein. A change of at least about 20% in the level of expression visa-vie a normal individual indicates an SGEF anomaly. The SGEF protein is also used as a preventive or curative treatment of atherosclerosis by local or systemic delivery. The invention also provides a composition comprising an inhibitor of the SGEF gene expression or SGEF protein concentration, as a therapeutic means for glaucoma, osteoarthritis, auto-inflammatory diseases, tumors or cancers. |
