Genetics of chondrocalcinosis

Raihana Zaka, Charlene J. Williams

Research output: Contribution to journalReview articlepeer-review

20 Scopus citations

Abstract

Rapid developments in genetic analysis have enabled the dissection of a variety of arthropathies that are inherited in a Mendelian manner. These disorders include calcium crystal arthropathies such as calcium pyrophosphate dihydrate deposition (CPPD) disease and hydroxyapatite deposition disease. In CPPD disease, mutations in a recently discovered gene, ANKH, have been demonstrated in five affected families and may also be associated with the idiopathic deposition of calcium pyrophosphate dihydrate crystals. The product of ANKH appears to be involved in cellular transport of inorganic pyrophosphate (PPi) and mutations in ANKH have been shown to have a significant impact on the regulation of intra- and extracellular levels of PPi. In families with hydroxyapatite deposition disease, no gene locus has yet been linked to the disorder.

Original languageEnglish (US)
Pages (from-to)745-750
Number of pages6
JournalOsteoarthritis and Cartilage
Volume13
Issue number9
DOIs
StatePublished - Sep 2005
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Rheumatology
  • Biomedical Engineering
  • Orthopedics and Sports Medicine

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