Nail-Patella Syndrome

Gene mutation influences filtering of blood by kidneys

Published in Blood Weekly, May 23rd, 2002

Researchers have uncovered new information about a gene that when mutated prevents the kidneys from filtering properly. The mutation causes a rare disorder known as nail-patella syndrome, which frequently involves kidney abnormalities.

"This gene, known as Lmx1b, regulates production of other proteins that are required for normal kidney function," said Jeffrey H. Miner, PhD, assistant professor of medicine and of cell biology and physiology at the Washington University School of Medicine in St. Louis and lead author of the paper. "Our findings should improve the understanding of nail-patella syndrome and of kidney function and failure." The findings appear in the...

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Source: Blood Weekly (2002-05-23)

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