PITTSBURGH, Dec. 5 Geneticists from the University of Pittsburgh have identified mutations in a gene that are responsible for two heritable kidney diseases. The discovery of four novel gene mutations in the uromodulin (UMOD) gene which are responsible for medullary cystic kidney disease 2 (MCKD2) and familial juvenile hyperuricemic nephropathy (FJHN) proves that these two diseases are actually the same condition, according to a study from the team of researchers led by the University of Pittsburgh School of Dental Medicine. These findings, published in the December issue of the Journal of Medical Genetics, will allow physicians to more effectively test patients for this condition.

The geneticists from the University of Pittsburgh studied DNA from members of several large families with multiple members having progressive kidney failure and gout. The group, led by Thomas Hart, D.D.S., Ph.D., associate professor of oral pathology and medicine at the University of Pittsburgh School of Dental Medicine, was able to identify a small genetic change in the UMOD gene in all affected family members. The product of this gene, a protein called uromodulin is the most common protein in normal urine. Despite its being so common, the precise role of uromodulin is unknown. This study presents the first discovery of genetic defects in this gene, making the role of uromodulin more apparent. The identification of mutations in the UMOD gene will allow testing of clinically unaffected family members to identify those with the gene defect, permitting treatment intervention before significant pathology has occurred.

"If we are able to test children and siblings of individuals already diagnosed with this condition, we can diagnose and treat the disease early, possibly preventing the progression of kidney disease in these patients," said Dr. Thomas Hart.

Prior to the findings in this study, it was known that both MCKD2 and FJHN were heritable renal diseases that shar
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Contact: Jocelyn Uhl
412-647-3555
University of Pittsburgh Medical Center
9-Dec-2002

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