"The discovery that multiple families have mutations in INF2 is exciting and not only furthers our understanding of FSGS, but also tells us that INF2 and the pathways in which it is involved are important for normal kidney function," says Brown. "FSGS is a frustrating disease for clinicians, as we have little understanding of the biology and poor treatment options. We hope that further scientific work on INF2 will lead to better options."

INF2 encodes a protein that regulates actin, a protein vital to creating and maintaining the architecture of the cell. Both actin and INF2 are abundant in podocytes, the kidney cells that are crucial to filtering toxins. These cells are structurally complex, with extensions that interlock with those of other cells. Based on their findings, the researchers believe that disruption of INF2 in podocytes compromises their structure and, hence, their function.

In 2007 alone, 1,117 kidney transplants were performed on FSGS patients, according to NephCure. "To make matters worse, many patients have recurrence of the disease soon after transplant," says William Harmon, MD, chief of Children's Division of Nephrology. "First it ruins your native kidney, then it can return instantly in the transplant and ruin that also."

"It truly is heart-breaking to have to look a child in the eye and know there's currently little that can be done to cure them of this disease," says Henry Brehm, executive director of The NephCure Foundation, which has dedicated over $6 million towards research of FSGS and Nephrotic Syndrome in recent years. "This study shows that the answers are there to be found."

SOURCE Children's Hospital Boston