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.

View at publisher


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.

Impact and interest:

8 citations in Scopus
Search Google Scholar™

Citation counts are sourced monthly from Scopus and Web of Science® citation databases.

These databases contain citations from different subsets of available publications and different time periods and thus the citation count from each is usually different. Some works are not in either database and no count is displayed. Scopus includes citations from articles published in 1996 onwards, and Web of Science® generally from 1980 onwards.

Citations counts from the Google Scholar™ indexing service can be viewed at the linked Google Scholar™ search.

ID Code: 88008
Item Type: Journal Article
Refereed: Yes
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
DOI: 10.1007/s11926-007-0037-7
ISSN: 1523-3774
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

Export: EndNote | Dublin Core | BibTeX

Repository Staff Only: item control page