Genetic factors in the pathogenesis of CPPD crystal deposition disease.
Crystal deposition is a very complex process ruled by numerous factors. A small but important proportion of cases of chondrocalcinosis are monogenic, and many of the genes involved have been identified. These genetic findings strongly point to control of the level of extracellular inorganic pyrophosphate as the primary mechanism for their association with either calcium pyrophosphate dihydrate or hydroxyapatite deposition. However, effects on extracellular inorganic pyrophosphate levels do not explain the mechanism of association in all of these monogenic diseases. Further, there are likely to be several as yet unidentified genes that are important in this common condition. This review highlights what genetic studies have demonstrated about the processes involved in these diverse but related disorders.
Couto
Ana Rita
AR
Botnar Research Centre, University of Oxford, England.
Brown
Matthew A
MA
D000818:Animals; D002805:Chondrocalcinosis / Q000235:genetics* / Q000503:physiopathology; D004195:Disease Models, Animal; D006801:Humans; D004057:Hyperostosis, Diffuse Idiopathic Skeletal; D007014:Hypophosphatasia / Q000235:genetics; D051379:Mice; D028061:Phosphate Transport Proteins / Q000235:genetics; D010727:Phosphoric Diester Hydrolases / Q000235:genetics; D011110:Polymorphism, Genetic / Q000235:genetics*; D011755:Pyrophosphatases / Q000235:genetics
C498770:ANKH protein, human; D028061:Phosphate Transport Proteins; D010727:Phosphoric Diester Hydrolases; C065962:ectonucleotide pyrophosphatase phosphodiesterase 1; D011755:Pyrophosphatases