Genetic factors in the pathogenesis of CPPD crystal deposition disease
Couto, A. R. & Brown, M.A. (2007) Genetic factors in the pathogenesis of CPPD crystal deposition disease. Current Rheumatology Reports, 9(3), pp. 231-236.
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.
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|Item Type:||Journal Article|
|Additional Information:||No file attached.|
|Keywords:||alkaline phosphatase, calcium pyrophosphate, esterase, hydroxyapatite, nucleotide pyrophosphate phosphodiesterase, pyrophosphate, unclassified drug, biological model, chondrocalcinosis, crystal structure, crystallization, DNA polymorphism, extracellular fluid, gene activity, gene identification, gene mapping, gene mutation, heredity, human, hyperostosis, mineral balance, mineralization, monogenic disorder, nonhuman, promoter region, review, Animals, Disease Models, Animal, Humans, Hyperostosis, Diffuse Idiopathic Skeletal, Hypophosphatasia, Mice, Phosphate Transport Proteins, Phosphoric Diester Hydrolases, Polymorphism, Genetic, Pyrophosphatases|
|Divisions:||Current > Schools > School of Biomedical Sciences
Current > Institutes > Institute of Health and Biomedical Innovation
|Deposited On:||02 Oct 2015 00:16|
|Last Modified:||18 Oct 2015 22:52|
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