Cuff tear arthropathy - Evidence of functional variation in pyrophosphate metabolism genes

Peach, Chris A., Zhang, Yun, Dunford, James E., Brown, Matthew A. and Carr, Andrew J. (2007) Cuff tear arthropathy - Evidence of functional variation in pyrophosphate metabolism genes. Clinical Orthopaedics and Related Research, 462: 67-72. doi:10.1097/BLO.0b013e31811f39de

Author Peach, Chris A.
Zhang, Yun
Dunford, James E.
Brown, Matthew A.
Carr, Andrew J.
Title Cuff tear arthropathy - Evidence of functional variation in pyrophosphate metabolism genes
Journal name Clinical Orthopaedics and Related Research   Check publisher's open access policy
ISSN 0009-921X
Publication date 2007-09
Sub-type Article (original research)
DOI 10.1097/BLO.0b013e31811f39de
Issue 462
Start page 67
End page 72
Total pages 6
Place of publication New York, N.Y. U.S.A.
Publisher Springer
Language eng
Subject C1
110314 Orthopaedics
1103 Clinical Sciences
Abstract We investigated the role of two genes, ANKH and TNAP, in patients with cuff tear arthropathy. These genes encode proteins which regulate the extracellular concentration of inorganic pyrophosphate, fluctuations of which can lead to calcium crystal formation. Variants were detected by direct sequencing of DNA and their frequencies compared with healthy controls. The effect of variants on protein function was further studied by in vitro approaches. Variant genotypes were observed more frequently in the cases when compared with controls in ANKH (45% and 20%) and TNAP (32% and 9%). Variants in ANKH altered inorganic pyrophosphate (PPi) concentrations in transfected human chondrocytes. There was a higher mean serum concentration of TNAP detected in female patients compared with normal ranges. Cuff tear arthropathy is associated with variants in ANKH and TNAP that alter extracellular inorganic pyrophosphate concentrations causing calcium crystal deposition. This supports a theory that genetic variants predispose patients to primary crystal deposition which when combined with a massive rotator cuff tear leads to the development of arthritis.
Keyword Dihydrate Deposition Disease
Inorganic Pyrophosphate
Calcium Pyrophosphate
MilwaukeeI Shoulder
Spondyloepiphyseal Dysplasia
Precocious Osteoarthritis
NTP Pyrophosphohydrolase
Crystal Deposition
II Gene
Q-Index Code C1

Document type: Journal Article
Sub-type: Article (original research)
Collection: UQ Diamantina Institute Publications
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Created: Tue, 07 Sep 2010, 10:03:33 EST