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Autosomal Dominant Polycystic Kidney Disease (ADPKD) Unravelled

  February, 18 2002 4:05
your information resource in human molecular genetics
Autosomal dominant polycystic kidney disease (ADPKD) affects 1 in 1000 newborn babies, making it the most common genetic kidney failure disease. ADPKD is due to mutations in either of the PKD1 or the PKD2 genes. PKD2 encodes a calcium channel of the TRP family. In the March issue of Nature Cell Biology (article also published online), Stefan Somlo and his colleagues show that PKD2 functions in epithelial cells of the kidney to release calcium from the endoplasmic reticulum (an intracellular calcium store). In addition, they show that the defect in polycystic kidney disease is loss of this calcium signalling mechanism.

Author contact:

Stefan Somlo
Yale University School of Medicine
New Haven, CT
Tel: +1 203 737 2974
E-mail: stefan.somlo@yale.edu

(C) Nature Cell Biology press release.

Message posted by: Trevor M. D'Souza

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