Identification and characterisation of a gene conferring susceptibility to Focal Segmental Glomerulosclerosis

肾脏疾病是一个严重且日益严重的健康问题，尤其是在老年人中。高达20%的终末期肾衰竭患者有一种特殊的肾疤痕，称为FSGS。这可能是自发发生的，或者更常见的是由于其他疾病的影响，包括糖尿病、肥胖和高血压。最近，科学家们开始研究一些似乎遗传了自发性FSGS的家庭。通过这样做，他们发现了许多不同的基因，这些基因对肾脏的正常功能至关重要。当它们出错时，异常基因会导致进行性肾瘢痕和FSGS。我们已经确定了一个家族与遗传性模式的肾衰竭和FSGS。初步分析表明，遗传问题与已经发现的问题不同。我打算在这个家族中找到导致这种疾病的基因。然后我将研究这个基因在正常情况下是怎么做的，是什么出了问题导致了这种肾脏疾病。我们希望更多地了解常见疾病中出现的疤痕形成过程，并最终找到一种方法来防止这种情况导致肾衰竭。

Kidney disease is a serious and increasing health problem, especially in older people. Up to 20% of people with end-stage kidney failure have a particular pattern of kidney scarring called FSGS. This can occur spontaneously, or more commonly is due to the effects of other conditions, including diabetes, obesity, and high blood pressure. Recently scientists have begun to look at a number of families where the spontaneous form of FSGS appears to be inherited. By doing this they have discovered a number of different genes that are crucial to the normal functioning of the kidney. When they go wrong, the abnormal genes cause progressive kidney scarring and FSGS.We have identified a family with an inherited pattern of kidney failure and FSGS. Preliminary analysis shows that the genetic problem is different from those that have already been discovered. I plan to find the gene responsible for the disease in this family. I will then investigate what the gene does normally, and what goes wrong to cause this pattern of kidney disease. We hope to learn more about the scarring process that is seen in common diseases, and ultimately find a way to prevent this condition from causing kidney failure.