The ANKH gene and familial calcium pyrophosphate dihydrate deposition disease.

Patrick Netter, Thomas Bardin, Arnaud Bianchi, Pascal Richette, Damien Loeuille

Laboratoire de Physiopathologie et Pharmacologie Articulaires, UMR 7561 CNRS-UHP, Faculté de Médecine, 54505 Vandoeuvre Lès Nancy, France. netter@medecine.uhp-nancy.fr

Joint, bone, spine : revue du rhumatisme 2004 Sep

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Familial calcium pyrophosphate dihydrate deposition (CPPD) disease is a chronic condition in which CPPD microcrystals deposit in the joint fluid, cartilage, and periarticular tissues. Two forms of familial CPPD disease have been identified: CCAL1 and CCAL2. The CCAL1 locus is located on the long arm of chromosome 8 and is associated with CPPD and severe osteoarthritis. The CCAL2 locus has been mapped to the short arm of chromosome 5 and identified in families from the Alsace region of France and the United Kingdom. The ANKH protein is involved in pyrophosphate metabolism and, more specifically, in pyrophosphate transport from the intracellular to the extracellular compartment. Numerous ANKH gene mutations cause familial CCAL2; they enhance ANKH protein activity, thereby elevating extracellular pyrophosphate levels and promoting the formation of pyrophosphate crystals, which produce the manifestations of the disease. Recent studies show that growth factors and cytokines can modify the expression of the normal ANKH protein. These results suggest a role for ANKH in sporadic CPPD disease and in CPPD associated with degenerative disease.

Citation

Patrick Netter, Thomas Bardin, Arnaud Bianchi, Pascal Richette, Damien Loeuille. The ANKH gene and familial calcium pyrophosphate dihydrate deposition disease. Joint, bone, spine : revue du rhumatisme. 2004 Sep;71(5):365-8