TRPC6 and kidney

编码瞬时受体电位阳离子通道TRPC6的显性突变在22个家族中被发现导致遗传性局灶节段性肾小球硬化（FSGS）。最初的功能分析导致TRPC6的功能获得突变是FSGS发展的原因。该研究项目涉及TRPC6的新突变分析，该突变在患有FSGS的人类中分离。应该澄清的是，TRPC6的功能缺失突变是否可能导致人类FSGS，并可能与儿童早期FSGS有关。这些研究有助于更好地了解TRPC6在人类蛋白尿综合征发展中的作用。建议的研究表明，TRPC6在男性FSGS中的作用发生了范式转变。药物靶向TRPC6可能是治疗肾小球狭缝膜功能障碍和蛋白尿的新途径。

Dominant mutations in TRPC6 encoding the transient receptor potential cation channel TRPC6 have been identified in 22 families to cause hereditary focal segmental glomerulosclerosis (FSGS). Initial functional analyzes have led to the concept that gain-of-function mutations in TRPC6 are responsible for the development of FSGS. This research project deals with the analysis of novel mutations in TRPC6, which segregate in humans with FSGS. It should be clarified whether loss-of-function mutations in TRPC6 may lead to FSGS in humans and may be associated with early FSGS in childhood. The investigations serve to better understand the role of TRPC6 in the development of proteinuric syndromes in humans. The suggested studies suggest a paradigm shift on the role of TRPC6 in FSGS in man. Pharmacological targeting of TRPC6 may represent a novel approach to treat dysfunction of the glomerular slit membrane and proteinuria.