Duke University Medical Center researchers have discovered a gene responsible for one form of chronic kidney disease. The disease, called familial focal segmental glomerulosclerosis (FSGS), can lead to complete kidney failure and affects 20 percent of patients on dialysis. The finding could lead to more effective treatments, according to the researchers.
By examining the genetic makeup of one large, multi-generational family with a dominant form of FSGS, the researchers linked a mutant form of the gene called Transient Receptor Potential Cation Channel 6 (TRPC6) to the disease. Whats more, because the gene differs in function from those earlier implicated in FSGS, the finding represents a novel mechanism of kidney damage, said Michelle Winn, M.D., a kidney specialist and geneticist at the Duke Center for Human Genetics and lead author of the study.
Drugs that target the ion channel might offer an effective treatment to slow or prevent scarring of the kidney, the primary manifestation of the disease seen in patients, the researchers said. Such channels are pore-like proteins in the membranes of cells thought to control the flow of calcium.
Kendall Morgan | EurekAlert!
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