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Blind attraction: The mechanism of an inherited congenital cataract

机译:盲目吸引:先天性白内障的遗传机制

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摘要

Cataract is the leading cause of blindness in the world, and most cataracts are age-related (1). The proteins in the lens degrade with time, and the subsequent aggregation of the modified proteins produces an increase in light scattering, and hence a loss of vision (2). There are cases, however, in which cataract is an inherited single-gene disorder. Currently, around 60 such cataracts have been identified (3). In these cases, the cause' of the disease is a mutation in the genes that code for the lens proteins.
机译:白内障是世界上失明的主要原因,大多数白内障与年龄有关(1)。晶状体中的蛋白质会随着时间而降解,修饰蛋白质的后续聚集会增加光散射,从而导致视力下降(2)。但是,在某些情况下,白内障是遗传的单基因疾病。目前,已经鉴定出约60种这种白内障(3)。在这些情况下,疾病的原因是编码晶状体蛋白的基因突变。

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