青光眼发病,基因变异 z-bo 2020-10-19 334

　　Three independent reports published online on the Nature-Genetics website published genetic mutations related to the risk of glaucoma. This can provide better diagnostic tools and treatment options for the treatment of glaucoma. Glaucoma is an eye disease that can gradually destroy the light sensory nerve and cause permanent blindness. High intraocular pressure is a common cause of glaucoma, but people with normal intraocular pressure can also develop glaucoma.

　　In the first report, Yang Zhenglin and others discovered that there are mutations near two genes ABCA1 and PMM2 in Chinese and Singaporeans. Regardless of the patient's own eyes, these two genes can cause glaucoma. Press high or low. Previous studies have not found that these two genes related to other eye diseases actually affect the cause of glaucoma. In the second report, Puya Gharahkhani and others identified variants related to three genes, including ABCA1, which is related to glaucoma in Australians and Europeans and Americans. The third report was completed by Christopher Hammond and his colleagues. It combined genetic data from 18 populations, including a mixed population of Asia and Europe. Finally, ABCA1 is also a risk gene for high intraocular pressure and glaucoma. confirm. These two conditions are also related to the other two genetic mutations. ABCA1 is the main regulator of cellular cholesterol and lipid levels. Previous studies have shown that the expression of this gene in the blood of glaucoma patients is higher than that of normal people, so it may be a potential drug target.