ADDENDUM TO USE OF HUMAN LENS MATERIAL FOR DETERMINING CAUSES OF CATARACTS

使用人类晶状体材料确定白内障原因的附录

• 批准号: 3777651
• 负责人: M I KAISER-KUPFER
• 金额: --
• 依托单位: NATIONAL EYE INSTITUTE
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/3777651
• 关键词: cataract; cataract surgery; congenital eye disorder; eye disorder diagnosis; family genetics; human subject; lens; pathologic process

Although the etiologies of some secondary cataracts are becoming better understood and certain animal models show promise for elucidating the relationships between lens crystalline and hereditary cataract, little is known about the causes of congenital cataracts in humans. To date, the classification of different congenital cataracts has been cumbersome and imperfect. A better understanding of cataractogenesis will come through an understanding of the molecular components of the lens of the eye and the ways in which lesions of these components are manifested, structurally and functionally, as opacities of the lens. Animal studies have suggested that alterations in lens crystalline can cause hereditary cataracts, making them reasonable candidate genes for causing hereditary cataracts in humans. In addition, it is apparent that hereditary lesions that mimic or contribute additively to environmental stress known to cause cataracts might be candidate genes for causing hereditary cataracts. The work in this project is designed to concentrate specifically on congenital and hereditary cataracts and to take full advantage of molecular technology developed for linkage analysis. Studies performed on informative families will include collecting blood specimens from available family members and, when possible, analyzing lens material from patients who undergo cataract surgery.

尽管一些继发性白内障的病因正在好转 被理解的和某些动物模型显示出阐明 晶状体与遗传性白内障的关系 已知人类先天性白内障的原因。到目前为止， 对不同的先天性白内障进行分类一直很麻烦，而且 不完美。我们将更好地理解白内障的发病机制。 了解眼睛晶状体的分子组成和 这些成分的损伤在结构上的表现方式 在功能上，如镜片的混浊。动物研究表明 晶状体中晶体的变化会导致遗传性白内障， 使它们成为导致遗传性白内障的合理候选基因 人类。此外，很明显，模仿或 增加已知的导致白内障的环境压力 可能是导致遗传性白内障的候选基因。在中国的工作 这个项目是专门针对先天性和先天性的 遗传性白内障与充分利用分子技术 为连锁分析而开发。对信息型家庭进行的研究 将包括从可用的家庭成员那里收集血液样本， 如果可能，分析来自白内障患者的晶状体材料 做手术。