Project 7

Discovery of a novel gene causing renal failure

Some rare types of kidney disease are known to affect a family over several generations where a single gene can be inherited which causes kidney failure in the next generation. Alport’s disease is an example of this.

At MRI, we have seen a family where two of the children developed renal failure in their late teens and received kidney transplants. Both cases experienced a similar post-transplant course with rapid onset of proteinuria and a histological diagnosis of membranous nephropathy (MN).Their transplants failed within two years. The family have consented to investigations to try to identify the cause of the kidney failure. From the research that we have carried out so far, we have identified a candidate gene that is expressed in the kidney podocyte in healthy individuals, but we think is not correctly expressed in this family and which eventually leads to kidney failure. The purpose of this pilot study funded by Kidneys for Life is to characterise the gene in more detail to prove the case that it is the cause of the symptoms described in the family.

We expect that the outcome of this pilot study will

• Define a new gene causing an FSGS type of proteinuria in native kidneys.
• Identify a new autoantigen accounting for cases of de novo membranous nephropathy in transplants.