Faulty Gene Like TRPC6 Involving In Devastating Form Of Kidney Condition

According to the research study the scientists revealing; that how a faulty gene leading to kidney disease. This showing faulty gene involving in a devastating form of a kidney condition; knowing as nephrotic syndrome leading to disease in some patients have been identified in new Kidney. These leading to new ways to prevent or treat the condition; by revealing new targets to intervene in the process.

Around 1 in 50,000 children are diagnosing with nephrotic syndrome each year. But finally, the researchers showing that a protein called TRPC6; which controls how calcium enters cells, also acts as an ‘anchoring’ protein in the kidney, controlling how kidney cells; called podocytes move around and maintain the structure of the kidney’s filter. Mutations in the transient receptor potential channel 6 (TRPC6) gene are associated with an inherited form of FSGS.

Faulty gene leading to kidney disease

Despite widespread expression, patients with TRPC6 mutations do not present with any other pathologic phenotype, suggesting that this protein has a unique yet unidentified role within the target cell for FSGS, the kidney podocyte. cells containing the same TRPC6 fault as some patients with nephrotic syndrome, this anchor is lost, directly affecting the kidney’s filter because it makes podocytes sticky and unable to move.

But when podocytes cannot move, holes develop in the filter; and it cannot stop important proteins from passing through into the urine. Our kidneys act as a filter to clean the blood; allowing waste products to enter the urine while retaining important proteins in the body, similar to a sieve. The kidney’s filter is made of several cell types; including cells called podocytes.

Nephrotic syndrome

In nephrotic syndrome, this filter doesn’t work properly and larger holes develop in the sieve, so essential proteins escape into the urine. This latest research sheds light on why this happening. But although TRPC6 causig kidney disease; we did not know this protein had this anchoring role in the podocyte until now. TRPC6 is present throughout the body but patients with the faulty gene only develop problems in their kidneys. We thought TRPC6 might interact with something else within kidney cells and we wanting to identify what that might be.

However, study showing that TRPC6 sticks to a protein called calpain and keeps it located in the right place in the cell, similar to an anchor. With TRPC6 anchoring it in place, calpain can cut proteins involved in sticking the cell down, so the cell moves in a controlled manner. In some patients, the part of TRPC6 that acts as a calpain anchor is missing and their cells are too sticky and cannot move, which leads to disease.