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Researchers say they’ve identified a gene responsible for a form of chronic kidney disease.
The Duke University team found that a mutant form of the gene, called Transient Receptor Potential Cation Channel 6, is linked to familial focal segmental glomerulosclerosis (FSGS), a form of kidney disease that can lead to complete organ failure. About 20 percent of patients on dialysis are affected by FSGS.
The researchers also found that the gene differs in function from genes previously linked to FSGS, suggesting a whole new mechanism driving kidney damage in some patients, according to study lead author Dr. Michelle Winn, a kidney specialist and geneticist at the Duke Center for Human Genetics.
The study findings could help in the development of more effective treatments for FSGS.
The Duke researchers isolated this gene by examining the genetics of one large, multigenerational family with a dominant form of FSGS. The gene affects the function of a specific cellular structure called an ion channel.
"This gene represents the first ion channel to be associated with FSGS. It’s a new mechanism for kidney disease, which may allow us to advance on new treatments as ion channels are known to be amenable to drug therapy," Winn said in a prepared statement.
Drugs that target the ion channel may provide an effective treatment to slow or prevent kidney scarring in people with FSGS. Ion channels, which are pore-like proteins in the membranes of cells, are believed to control the flow of calcium and other nutrients.
