Physiological role of alkaline phosphatase explored in hypophosphatasia

Annals of the New York Academy of Sciences

Volumn 1192, Issue , 2010, Pages 190-200

  Whyte, Michael P ^a,b  

^a SHRINERS HOSPITAL FOR CHILDREN   (United States)

^b BARNES JEWISH HOSPITAL   (United States)

Author keywords

Ectoenzyme; Inorganic pyrophosphate; Osteomalacia; Rickets

Indexed keywords

ALKALINE PHOSPHATASE; BISPHOSPHONIC ACID DERIVATIVE; CORTISONE; HYDROXYAPATITE; MAGNESIUM; PARATHYROID HORMONE[1-34]; PHOSPHOETHANOLAMINE; PYRIDOXAL 5 PHOSPHATE; PYRIDOXINE; PYROPHOSPHATE; ZINC;

ADULT HYPOPHOSPHATASIA; ALKALINE PHOSPHATASE DEFICIENCY; APNEA; ARTHROPATHY; BIOCHEMISTRY; BONE DISEASE; BONE MARROW TRANSPLANTATION; BONE MINERALIZATION; BRAIN HEMORRHAGE; CELL VACUOLE; CHEMISTRY; CHILDHOOD HYPOPHOSPHATASIA; CHONDROCALCINOSIS; CLEIDOCRANIAL DYSPLASIA; CLINICAL FEATURE; CONFERENCE PAPER; DENTITION; ENZYME DEFICIENCY; ENZYME INHIBITION; EPILEPSY; EXTRACELLULAR MATRIX; FIBROBLAST; GENE FUNCTION; GENE MUTATION; GENE STRUCTURE; GENETIC DISORDER; HISTOPATHOLOGY; HUMAN; HYDROLYSIS; HYPERCALCEMIA; HYPERCALCIURIA; HYPERPHOSPHATEMIA; HYPOPHOSPHATASIA; HYPOPHOSPHATEMIA; INBORN ERROR OF METABOLISM; INFANTILE HYPOPHOSPHATASIA; INHERITANCE; KNOCKOUT MOUSE; LABORATORY TEST; LOSS OF FUNCTION MUTATION; NONHUMAN; ODONTOHYPOPHOSPHATASIA; OSTEOGENESIS IMPERFECTA; OSTEOMALACIA; PERINATAL HYPOPHOSPHATASIA; PH; PROGNOSIS; RACE; RADIOGRAPHY; RICKETS; SKULL DEFECT; SUBSTITUTION THERAPY; VITAMIN METABOLISM;

EID: 77950665927     PISSN: 00778923     EISSN: 17496632     Source Type: Book Series    
DOI: 10.1111/j.1749-6632.2010.05387.x     Document Type: Conference Paper

References (40)

1. Robison, R. 1932. The Significance of Phosphoric Esters in Metabolism. New York University Press. New York.
2. McComb, R.B., G. N. Bowers, Jr. & S. Posen. 1979. Alkaline Phosphatase. Plenum. New York.
3. Neuman, W. F. & M.W. Neuman. 1957. Emerging concepts of the structure and metabolic functions of bone. Am. J. Med. 22: 123-131.
4. Whyte, M.P. 2001. Hypophosphatasia. In The Metabolic andMolecular Bases of InheritedDisease, 8th edn. Scriver, C.R., A.L. Beaudet,W.S. Sly & D. Valle, Eds.: 5313-5329. McGraw-Hill. New York.
5. Millan, J.L. 2006. Mammalian Alkaline Phosphatases: From Biology to Applications in Medicine and Biotechnology. Wiley-VCH.Weinheim, Germany.
6. Whyte, M.P. 2008. Hypophosphatasia: Nature's window on alkaline phosphatase function in humans. In Principles of Bone Biology, 3rd edn. Bilezikian, J.P., L.G. Raisz& T.J.Martin, Eds.: 1573-1598.Academic Press. SanDiego, California.
7. Anderson, H.C. 1969. Vesicles associated with calcification in the matrix of epiphyseal cartilage. J. Cell. Biol. 41: 59-72.
8. Wuthier, R.E. & T.C. Register. 1985. Role of alkaline phosphatase, a polyfunctional enzyme in mineralizing tissues. In The Chemistry and Biology ofMineralized Tissues. W.T. Butler, Ed.: 113-124. EBSCOMedia. Birmingham.
9. Caswell, A.M., M.P. Whyte & R.G. Russell. 1991. Hypophosphatasia and the extracellular metabolism of inorganic pyrophosphate: Clinical and laboratory aspects. CRC Crit. Rev. Clin. Lab. Sci. 28: 175-232.
10. Russell, R.G., S. Bisaz, A. Donath, et al. 1971. Inorganic pyrophosphate in plasma in normal persons and in patients with hypophosphatasia, osteogenesis imperfecta, and other disorders of bone. J. Clin. Invest. 50: 961-969.
11. Coburn, S.P., J.D.Mahuren, M. Jain, et al. 1998. Alkaline phosphatase (EC 3.1.3.1) in serum is inhibited by physiological concentrations of inorganic phosphate. J. Clin. Endocrinol. Metab. 83: 3951-3957.
12. Weiss, M.J., K. Ray, P.S. Henthorn, et al. 1988. Structure of the human liver/bone/kidney alkaline phosphatase gene. J. Biol. Chem. 263: 12002-12010.
13. Le Due, H.M., T. Stigbrand, M.J. Taussig, et al. 2000. Crystal structure of alkaline phosphatase from human placenta at 1.8 Å resolution. J. Biological. Chem. 275: 9158-9165.
14. Fedde, K.N., C.C. Lane & M.P. Whyte. 1988. Alkaline phosphatase in an ectoenzyme that acts on micromolar concentrations of natural substrates at physiologic pH in human osteosarcoma (SAOS-2) cells. Arch. Biochem. Biophys. 264: 400-409.
15. Xu, Y., T.F. Cruz & K.P. Pritzker. 1991. Alkaline phosphatase dissolves calcium pyrophosphatase dihydrate crystals. J. Rheumatol. 18: 1606-1610.
16. Farley, J.R. 1991. Phosphate regulates the stability of skeletal alkaline phosphatase activity in human osteosarcoma (SaOS-2) cells without equivalent effects on the level of skeletal alkaline phosphatase immuno-reactive protein. Calcif. Tissue Int. 57: 371-378.
17. Whyte, M.P., J.D. Mahuren, L.A. Vrabel & S.P. Coburn. 1985. Markedly increased circulating pyridoxal-5′- phosphate levels in hypophosphatasia: Alkaline phosphatase acts in vitamin B6 metabolism. J. Clin. Invest. 76: 752-756.
18. Whyte, M.P., J.D. Mahuren, K.N. Fedde, et al. 1988. Perinatal hypophosphatasia: Tissue levels of vitamin B6 are unremarkable despite markedly increased circulating concentrations of pyridoxal-5′-phosphate. Evidence for an ectoenzyme role for tissue-nonspecific alkaline phosphatase. J. Clin. Invest. 81: 1234-1239.
19. Cai, G., T. Michigami, T. Yamamoto, et al. 1998. Analysis of localization of mutated tissue-nonspecific alkaline phosphatase proteins associated with neonatal hypophosphatasia using green fluorescent protein chimeras. J. Clin. Endocrinol. Metab. 83: 3936-3942.
20. Whyte, M.P. 2002. Rickets and osteomalacia (acquired and heritable forms). In The Oxford Textbook of Endocrinology and Diabetes. Wass, J.A.H. & S.M. Shalet, Eds.: 697-715. Oxford University Press. New York, NY.
21. Rathbun, J.C. 1948. Hypophosphatasia, a new developmental anomaly. Am. J. Dis. Child. 75: 822-831.
22. Heinonen, J.K. 2001. Biological Role of Inorganic Pyrophosphate. KluwerAcademicPublishers. Norwell,MA.
23. Mornet, E., A. Taillandier, S. Peyramaure, et al. 1998. Identification of fifteen novel mutations in the tissuenonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia. Eur. J. Hum. Genet. 6: 308-845.
24. Baumgartner-Sigl, S.B., E. Haberlandt, S. Mumm, et al. 2007. Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T>C, p.M226T; c.1112C>T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene. Bone 40, 1655-1661.
25. Cahill, R.A.,D.Wenkert, S.A. Perlman, et al. 2007. Infantile hypophosphatasia: Trial of transplantation therapy using bone fragments and cultured osteoblasts. J. Clin. Endocrinol. Metab. 92: 2923-2930.
26. Fallon, M.D., S.L. Teitelbaum, R.S. Weinstein, et al. 1984.Hypophosphatasia: Clinicopathologic comparison of the infantile, childhood, and adult forms. Medicine 63: 12-24.
27. Van Den Bos, T., G. Handoko, A. Niehof, et al. 2005. Cementum and dentin in hypophosphatasia. J. Dent. Res. 84: 1021-1025.
28. Whyte, M.P., S. Mumm & C. Deal. 2007. Adult hypophosphatasia treated with teriparatide. J. Clin. Endocrinol. Metab. 92: 1203-1208.
29. Macfarlane, J.D., J.H. Souverijn & F.C. Breedveld. 1992. Clinical significance of a lowserumalkaline phosphatase. Neth. J. Med. 40: 9-14.
30. Shohat, M., D.L. Rimoin, H.E. Gruber & R.S. Lachman. 1991. Perinatal lethal hypophosphatasia: Clinical, radiologic and morphologic findings. Pediatr. Radiol. 21: 421-427.
31. Anderson, H.C., H.H.T. Hsu, D.C. Morris, et al. 1997. Matrix vesicles in osteomalacic hypophosphatasia bone contain apatite-like mineral crystals. Am. J. Pathol. 151: 1555-1561.
32. Mornet, E. 2007. Tissue nonspecific alkaline phosphatase gene mutations database Yvelines (France): SESEP Laboratory at the University of Versailles- Saint Quentin. c2004. [updated 2007 July 4; assessed 2007 Dec 18]. Available from: http://www.sesep.uvsq.fr/ Database.html.
33. Whyte, M.P., W.H. McAlister, L.S. Patton, et al. 1984. Enzyme replacement therapy for infantile hypophosphatasia attempted by intravenous infusions of alkaline phosphatase-rich Paget plasma: Results in three additional patients. J. Pediatr. 105: 926-933.
34. Whyte, M.P., M. Landt, L.M. Ryan, et al. 1995. Alkaline phosphatase: Placental and tissue-nonspecific isoenzymes hydrolyze phosphoethanolamine, inorganic pyrophosphate, and pyridoxal 5′-phosphate (substrate accumulation in carriers of hypophosphatasia corrects during pregnancy). J. Clin. Invest. 95: 1440-1445.
35. Millan, J.L., S. Narisawa, I. Lemire, et al. 2008. Enzyme replacement therapy for murine hypophosphatasia. J. Bone Miner. Res. 23: 777-787.
36. Low, M.G. & A.R. Saltiel. 1988. Structural and functional roles of glycosyl-phosphatidylinositol in membranes. Science 239: 268-275.
37. Anderson, B.B., H. O'Brien, G.E. Griffin & D.L. Mollin. 1980. Hydrolysis of pyridoxal 5′-phosphate in plasma in conditions with raised alkaline phosphate. Gut. 21: 192-194.
38. Fedde, K.N., L. Blair, J. Silverstein, et al. 1999. Alkaline phosphatase knock-out mice recapitulate the metabolic and skeletal defects of infantile hypophosphatasia. J. Bone Miner. Res. 14: 2015-2026.
39. Fedde, K.N., C.C. Lane & M.P. Whyte. 1990. Alkaline phosphatase: (tissue nonspecific isoenzyme) is a phosphoethanolamine and pyridoxal 5′-phosphate ectophosphatase: Normal and hypophosphatasia fibroblast study. Am. J. Hum. Genet. 47: 767-775.
40. Murshed, M.,D.Harmey, J.L.Milĺan, et al. 2005. Broadly expressed genes accounts for the special restriction of ECM mineralization to bone. Genes Dev. 19: 1093-1104.