Yale School of Medicine researchers report in Nature Genetics this week that they have identified a gene whose function protects the body against kidney stones.
The research identifies a transporter, encoded by the gene, as a potential target for drugs to boost oxalate secretion in the gut and help prevent kidney stones, said Peter Aronson, M.D., professor of internal medicine and physiology and senior author of the study.
The most common type of kidney stones are composed of calcium oxalate. The transporter, known as SLC26A6, normally secretes oxalate into the intestine and prevents absorption of too much of the oxalate from the diet.
"When this gene is knocked out in the mouse, more oxalate from the diet is absorbed, the plasma level of oxalate is increased, more oxalate is excreted in the urine by the kidney, and kidney stones are formed," Aronson said.
In addition to pinpointing a potential drug target, he said the research raises the possibility that abnormal expression or regulation of the anion transporter encoded by the gene could cause kidney stones in humans, although this has not yet been tested directly.
Co-authors include first author Zhirong Jiang, M.D., John Asplin, M.D., Andrew Evan, Vazhaikkurichi Rajendran, Heino Velazquez, Timothy Nottoli, and Henry Binder, M.D.
The study was supported by grants from the National Institute of Diabetes & Digestive & Kidney Diseases.
Nature Genetics (DOI)10.1038/Ng1762: (Published online March 12, 2006)
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