Genetic studies of chondrocalcinosis

Zhang, Y. & Brown, M.A. (2005) Genetic studies of chondrocalcinosis. Current Opinion in Rheumatology, 17(3), pp. 330-335.

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Purpose of review

Our understanding of the causation of the chondrocalcinosis and other disorders characterized by ectopic mineralization is rapidly increasing, and genetic studies have contributed substantially to recent major advances in the field. This review will discuss what is known about the genetics of chondrocalcinosis and what we have learned from genetic studies to date.

Recent findings:

Chondrocalcinosis is one of a family of conditions associated with ectopic mineralization. This family also includes disorders of mineralization of bone and spinal and other ligaments, and vascular calcification. There has been increasing evidence of the key role of transport and metabolism of inorganic pyrophosphate (PPi) in control of mineralization, and as the likely explanation for the association of a variety of genetic variants with chondrocalcinosis and ectopic mineralization elsewhere. This may be an overly simplistic view of this family of conditions, with recent evidence suggesting that, for example, ANKH variants may not all predispose to chondrocalcinosis by effects on PPi transport, but may also influence chondrocyte maturation.


Understanding the control of the process of mineralization and its tissue specificity are important steps in the search for rational therapies for these conditions.

Impact and interest:

15 citations in Scopus
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13 citations in Web of Science®

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ID Code: 88007
Item Type: Journal Article
Refereed: Yes
Additional Information: No file attached.
Keywords: Chondrocalcinosis, Genetics, Inorganic pyrophosphate, alkaline phosphatase, nucleotide pyrophosphate synthetase, pyrophosphate, synthetase, unclassified drug, ankh gene, blood vessel calcification, disease association, gene, genetic disorder, genetic epidemiology, genetic variability, human, mineralization, monogenic disorder, nonhuman, phosphate transport, priority journal, review, spine, Animals, Disease Progression, Genetics, Medical, Humans
DOI: 10.1097/01.bor.0000157042.19740.f4
ISSN: 1040-8711
Divisions: Current > Schools > School of Biomedical Sciences
Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
Deposited On: 02 Oct 2015 00:12
Last Modified: 18 Oct 2015 22:56

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