Researchers at Wake Forest University Baptist Medical Center and the University of Pittsburgh report in the current Journal of Medical Genetics that they have found defects in the gene that produces a common protein in urine and that these defects are linked to two inherited kidney diseases.
For six years, the researchers had studied a family from Western North Carolina that has been plagued with a rare kidney disease, trying to learn more about the genetics of the disease. Anthony J. Bleyer, M.D., associate professor of internal medicine (nephrology) at Wake Forest, said the gene ordinarily produces a protein called either uromodulin or Tamm-Horsfall protein. Uromodulin is the most common protein released into the urine, but its function is unclear.
Bleyer said that Thomas C. Hart, D.D.S., Ph.D. of the University of Pittsburgh and formerly of Wake Forest, had identified mutations in the gene leading to defects in the protein. Defects in this protein led to a disease called familial juvenile hyperuricemic nephropathy in the North Carolina family and two other families. It also appears responsible for a disease called medullary cystic kidney disease Type 2 in another family.
Robert Conn | alfa
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