Investigating a genetic cause of left ventricular outflow tract obstruction.

研究左心室流出道梗阻的遗传原因。

• 批准号: G0900382/1
• 负责人: Catherine Mercer
• 金额: $ 31.71万
• 依托单位: University of Southampton
• 依托单位国家: 英国
• 项目类别: Fellowship
• 财政年份: 2009
• 资助国家: 英国
• 起止时间: 2009 至 无数据
• 项目状态: 已结题
• 来源: https://gtr.ukri.org/projects?ref=G0900382%2F1
• 关键词: Investigating; genetic; cause; left; ventricular

Congenital heart defects are one of the commonest congenital malformations and have very significant associated mortality and morbidity. In particular abnormalities of the left side of the heart are common. The cause for these defects is not known but a strong genetic component is established. The aim of this study is to identify genes that cause left sided cardiac lesions and to investigate their function.Three patients have been identified with a left sided heart abnormality, as well as an unusual chromosome configuration that leads to disruption of an area of genes. This gives clues as to which genes may cause the heart problem. The project will assess the possible genes by using human, mouse and fish embryo studies. When a particular gene is thought likely to be the cause of the heart lesions, it will be studied for mistakes in samples from other patients. It is only by knowing which genes cause such cardiac lesions that we can begin to target therapy to prevent them, or limit the extent of their effect. Since congenital heart disease is relatively common, the potential applications of the information from this project may affect numerous individuals in the future.

先天性心脏病是最常见的先天性畸形之一，有非常显着的相关死亡率和发病率。特别是心脏左侧的异常是常见的。这些缺陷的原因尚不清楚，但确定了一个强有力的遗传成分。本研究的目的是确定导致左心室病变的基因并研究其功能。三名患者已被确定患有左心室异常，以及导致基因区域破坏的异常染色体构型。这就为哪些基因可能导致心脏问题提供了线索。该项目将通过对人类、小鼠和鱼类胚胎的研究来评估可能的基因。当一个特定的基因被认为可能是心脏病变的原因时，它将被研究其他患者样本中的错误。只有知道是哪些基因导致了这样的心脏病变，我们才能开始靶向治疗来预防它们，或者限制它们的影响程度。由于先天性心脏病是相对常见的，从这个项目的信息的潜在应用可能会影响到未来的许多人。