Genetic and molecular basis of congenital cataracts

先天性白内障的遗传和分子基础

• 批准号: nhmrc : 426753
• 负责人: A/Pr Kathryn Burdon
• 金额: $ 30.31万
• 依托单位: Flinders University
• 依托单位国家: 澳大利亚
• 项目类别: NHMRC Project Grants
• 财政年份: 2007
• 资助国家: 澳大利亚
• 起止时间: 2007-01-01 至 2009-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/genetic-molecular-basis-congenital-cataracts/98232
• 关键词: Genetic; molecular; basis; congenital; cataracts

Cataracts are caused when the lens of the eye (which focuses light), loses transparency. They typically occur in older individuals, but can also occur in children, even as early as from birth. They usually result in severe vision impairment which can result in complete blindness. The only treatment is invasive surgery where the outcomes are poor, particulary in very young children. This research aims to discover the genes that cause cataract in children and to investigate how cataracts form. We are working with several large Australian families that have severe childhood cataracts in order to identify the specific genes that cause their disease. This is achieved through an investigation of the entire genome of these families which allows us to precisely pinpoint any genetic changes. We can then look for these changes in the genes in other childhood cataract patients as well as in adults with cataracts. This information will increase our understanding of how the lens of the eye works and how cataracts can form. One gene that can cause cataracts has already been identified, this is the Nance-Horan Syndrome gene. We will investigate the role of this gene in the lens of the eye. This gene also causes other severe disabilities including mental retardation. The exact function of this gene is unknown but by determining how it works we will be able to better understand cataract formation and mental retardation, with the ultimate aim of developing better diagnosis and timely treatment for these disorders.

白内障是由于眼睛的晶状体（聚焦光线）失去透明度而引起的。它们通常发生在老年人身上，但也可能发生在儿童身上，甚至从出生起就发生。它们通常会导致严重的视力障碍，甚至可能导致完全失明。唯一的治疗方法是侵入性手术，但效果不佳，特别是对于年幼的儿童。这项研究旨在发现导致儿童白内障的基因，并研究白内障是如何形成的。我们正在与几个患有严重儿童白内障的澳大利亚大家庭合作，以确定导致其疾病的特定基因。这是通过对这些家族的整个基因组进行研究来实现的，这使我们能够精确地查明任何遗传变化。然后，我们可以在其他儿童白内障患者以及患有白内障的成人中寻找基因的这些变化。这些信息将增加我们对眼睛晶状体如何工作以及白内障如何形成的理解。一种可以导致白内障的基因已经被鉴定出来，这就是南斯-霍兰综合症基因。我们将研究该基因在眼睛晶状体中的作用。该基因还会导致其他严重残疾，包括智力低下。该基因的确切功能尚不清楚，但通过确定其工作原理，我们将能够更好地了解白内障的形成和智力低下，最终目标是对这些疾病进行更好的诊断和及时治疗。