The ANKH ∆E490 mutation in calcium pyrophosphate dihydrate crystal deposition disease (CPPDD) affects tissue non-specific alkaline phosphatase (TNAP) activities

Open Rheumatology Journal

Volumn 2, Issue , 2008, Pages 23-30

  Wang, John ^a   Tsui, Hing Wo ^a   Beier, Frank ^b   Pritzker, Kenneth P H ^c   Inman, Robert D ^a,d   Tsui, Florence W L ^a,d  

^a UNIVERSITY HEALTH NETWORK   (Canada)

^b UNIVERSITY OF WESTERN ONTARIO   (Canada)

^c Pediatric Oral and Maxillofacial Surgery   (Canada)

^d UNIVERSITY OF TORONTO   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ALKALINE PHOSPHATASE; BETA ACTIN; BROMSULFOPHTHALEIN; CALCIUM PYROPHOSPHATE; COLLAGEN TYPE 10; COLLAGEN TYPE 2; COLLAGENASE 3; GLYCERALDEHYDE 3 PHOSPHATE DEHYDROGENASE; INSULIN; PYROPHOSPHATE; SELENIUM; TISSUE NON SPECIFIC ALKALINE PHOSPHATASE; TRANSCRIPTION FACTOR SOX5; TRANSCRIPTION FACTOR SOX6; TRANSCRIPTION FACTOR SOX9; TRANSFERRIN; UNCLASSIFIED DRUG;

ANKH GENE; ANKYLOSIS; ARTICLE; CALCIUM PYROPHOSPHATE DIHYDRATE CRYSTAL DEPOSITION DISEASE; CELL DIFFERENTIATION; CHONDROCYTE; CONTROLLED STUDY; DNA TRANSFECTION; ENZYME ACTIVITY; GENE; GENE EXPRESSION; GENE MUTATION; GENE OVEREXPRESSION; GENETIC TRANSCRIPTION; GENETIC TRANSFECTION; HUMAN; IMMUNOPRECIPITATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; REAL TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; UPREGULATION; WESTERN BLOTTING;

EID: 85056049039     PISSN: None     EISSN: 18743129     Source Type: Journal    
DOI: 10.2174/1874312900802010023     Document Type: Article

References (25)

1. Cheng PT, Pritzker KPH. Pyrophosphate, phosphate ion interactions: effects on calcium pyrophosphate and hydroxyapatite crystal formation in aqueous solutions. J Rheumatol 1983; 10: 769-77.
2. Pritzker KPH. Calcium pyrophosphate crystal arthropathy: A. Biomineralization disorder. Hum pathol 1986; 17: 543-5.
3. Ho AM, Johnson MD, Kingsley DM. Role of the mouse ank gene in control of tissue calcification and arthritis. Science 2000; 289: 265-70
4. Nurnberg P, Thiele H, Chandler D, et al. Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia. Nat Genet 2001; 28: 37-41.
5. Reichenberger E, Tiziani V, Watanabe S, et al. Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK. Am J Hum Genet 2001; 68: 1321-6.
6. Pendleton A, Johnson MD, Hughes A, et al. Mutations in ANKH caused chondrocalcinosis. Am J Hum Genet 2002; 71: 933-40.
7. Williams CJ, Zhang Y, Timms A, et al. Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH. Am J Hum Genet 2002; 71: 985-91.
8. Williams CJ, Pendleton A, Bonavita G, et al. Mutations in the amino terminus of ANKH in two US families with calcium pyrophosphate dihydrate crystal deposition disease. Arthritis Rheum 2003; 48: 2627-31.
9. Zhang Y, Johnson K, Russell GG, et al. Association of sporadic chondrocalcinosis with a 4-basepair G-to-A transition in the 5’-untranslated region of ANKH that promotes enhanced expression of ANKH protein and excess generation of extracellular inorganic pyrophosphate. Arthritis Rheum 2005; 52: 1110-7.
10. McKee S, Pendleton A, Dixey J, Doherty M, Hughes A. Autosomal dominant early childhood seizures associated with chondrocalcinosis and a mutation in the ANKH gene. Epilepsia 2004; 45: 1258-60.
11. Gurley KA, Reimer RJ, Kingsley DM. Biochemical and genetic analysis of ANK in arthritis and bone disease. Am J Hum Genet 2006; 79: 1017-29.
12. Zaka R, Stokes D, Dion AS, Kusnierz A, Han F, Williams CJ. P5L mutation in Ank results in an increase in extracellular inorganic pyrophosphate during proliferation and nonmineralizing hypertrophy in stably transduced ATDC5 cells. Arthritis Res Ther 2006; 8: R164.
13. Wang W, Xu J, Du B, Kirsch T. Role of the progressive ankylosis gene (ank) in cartilage mineralization. Mol Cell Biol 2005; 25: 312-23.
14. Murshed M, Harmey D, Millan JL, McKee MD, Karsenty G. Unique coexpression in osteoblasts of broadly expressed genes accounts for the spatial restriction of ECM mineralization to bone. Genes Dev 2005; 19: 1093-104.
15. Foster BL, Hociti Jr FH, Swanson EC, et al. Regulation of cementoblast gene expression by inorganic phosphate in vitro. Calcif Tissue Int 2006; 78: 103-12.
16. Wang J, Wang C, Tsui HW, et al. Microcytosis in ank/ank mice and the role of ANKH in promoting erythroid differentiation. Exp Cell Res 2007; 313: 4120-9.
17. Shukunami C, Ishizeki K, Atsumi T, Ohta Y, Suzuki F, Hiraki Y. Cellular hypertrophy and calcification of embryonal carcinoma-derived chondrogenic cell line ATDC5 in vitro. J Bone Miner Res 1997; 12: 1174-88.
18. Schmittgen TD, Zakrajsek BA, Mills AG, Gorn V, Singer MJ, Reed MW. Quantitative reverse transcription-polymerase chain re action to study mRNA decay: comparison of endpoint and real-time methods. Anal Biochem 2000; 285: 194-204.
19. Yepes M, Moore E, Brown SA, Hanscom HN, Smith EP, Lawrence DA, Winkles JA. Progressive ankylosis (Ank) protein is expressed by neurons and Ank immuno-histochemical reactivity is increased by limbic seizures. Lab Invest 2003; 83: 1025-32.
20. Shinozaki T, Pritzker KPH. Regulation of alkaline phosphatase: implications for calcium pyrophosphate dihydrate crystal dissolution and other alkaline phosphatase functions. J Rheumatol 1996; 23: 677-83.
21. Coburn SP, Mahuren JD, Jain M, Zubovic, Wortsman J. Alkaline phosphatase (EC 3.1.3.1) in serum is inhibited by physiological concentrations of inorganic phosphate. J Clin Endocrinol Metab 1998; 83: 3951-7.
22. So PP, Tsui FW, Vieth R, Tupy JH, Pritzker KP. Inhibition of alkaline phosphatase by cysteine: implications for calcium pyrophosphate dehydrate crystal deposition disease. J Rheumatol 2007; 34: 1313-22.
23. Halverson PB. Calcium crystal-associated diseases. Curr Opin Rheumatol 1996; 8: 259-61.
24. Zhang Y. Brown MA, Peach C, Russell G, Wordsworth BP. Investigation of the role of ENPP1 and TNAP genes in chondrocalcinosis. Rheumatology 2006; 13: 1-4.
25. Hirose J, Ryan LM, Masuda I. Up-regulated expression of cartilage intermediate-layer protein and ANK in articular hyaline cartilage from patients with calcium pyrophosphate dihydrate crystal deposition disease. Arthritis Rheum 2002; 46: 3218-29.