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Upstate researcher helped discover new kidney disease gene

SYRACUSE, N.Y.— Upstate Medical University researcher Mira Krendel, PhD, has been a key contributor to a study that identified a new gene, MYO1E, that is associated with the kidney disease Focal Segmental Glomerulosclerosis (FSGS) in children.

The study, published in The New England Journal of Medicine this summer, was led by researchers from the Mario Negri Institute for Pharmacological Research in Italy. The portion of the study conducted at Upstate was funded by the NephCure Foundation, a national kidney disease nonprofit based in Berwyn, Pa.

Krendel's laboratory at Upstate helped the group at the Mario Negri Institute examine the effects of FSGS-associated mutations in the gene MYO1E using state-of-the-art live-cell imaging tools available in the department of Cell and Developmental Biology at Upstate. Krendel was one of seven researchers who received a total of more than $1.7 million from NephCure as part of the 2009 Scientific Research Grant Program. Support was also provided by Upstate's Department of Cell and Development Biology.

Mutations in the gene MYO1E were found to be linked to FSGS in two families with multiple children affected by the disease, which attacks the kidney's filtering system, causing serious scarring that allows valuable protein in the blood to leak into the urine. Over time this condition can result in renal failure and the need for dialysis or a kidney transplant. Currently, the cause for FSGS is not known and there is no cure.

The researchers found that some patients with these mutations responded to cyclosporine, an immunosuppressant drug that is used to treat kidney disease.

FSGS is the second-leading cause of kidney failure in children. It is five-times more prevalent among African Americans.

For a free preview of the study from The New England Journal of Medicine, click here.