Characterisation of IQCJ deletion in vitro, mouse and human

Principal Researcher – Rachel Lennon

We investigated a family with three generations of kidney disease. In two siblings this resulted in
kidney failure and the development of membranous nephropathy following transplantation. We
discovered a fault in the gene IQCJ and we went on to work out why this gene is so important for
kidney function. We found that deleting the gene in zebrafish caused a similar kidney problem and
in kidney cells IQCJ may be important for transporting proteins around the cells. In this study we
want to continue the studies and to find out whether mice are also affected if the IQCJ gene is
absent. Altogether these studies will help us understand more about the development of kidney
failure and this could lead to new treatments.