163
Views
2
CrossRef citations to date
0
Altmetric
Research Article

Are bone defects in rare patients with Glanzmann's thrombasthenia associated with ITGB3 or ITGA2B mutations?

, , , &
Pages 547-551 | Received 15 Mar 2011, Accepted 16 Mar 2011, Published online: 12 Oct 2011

References

  • Holt I, Marshall MJ. Integrin subunit β3 plays a crucial role in the movement of osteoclasts from the periosteum to the bone surface. Journal of Cell Physiology 1998; 175: 1–9
  • Boissy P, Machuca I, Pfaff M, Ficheux D, Juric P. Aggregation of mononucleated precursors triggers cell surface expression of αvβ3 integrin, essential to formation of osteoclasts-like multinucleated cells. Journal of Cell Science 1998; 111: 2563–2574
  • Engleman VW, Nickols GA, Ross FP, Horton MA, Griggs DW, Settle SL, Ruminski PG, Teitelbaum SL. A peptidomimetic antagonist of the αvβ3 integrin inhibits bone resorption in vitro and prevents osteoporosis in vivo. Journal of Clinical Investigation 1997; 99: 2284–2292
  • Hodilvala-Dilke KM, McHugh KP, Tsakiris DA, Rayburn H, Crowley D, Ullman-Culleré M, Ross FP, Coller BS, Teitelbaum S, Hynes RO. β3-integrin-deficient mice are a model for Glanzmann thrombasthenia showing placental defects and reduced survival. Journal of Clinical Investigation 1999; 103: 229–238
  • McHugh KP, Hodilvala-Dilke K, Zheng MH, Namba N, Lam J, Novack D, Feng X, Ross FP, Hynes RO, Teitelbaum SL. Mice lacking β3 integrins are osteosclerotic because of dysfunctional osteoclasts. Journal of Clinical Investigation 2000; 105: 433–440
  • Feng X, Novack DV, Faccio R, Ory DS, Aya K, Boyer MI, McHugh KP, Ross FP, Teitelbaum SL. A Glanzmann's mutation in β3 integrin specifically impairs osteoclast function. Journal of Clinical Investigation 2001; 107: 1137–1144
  • Morgan EA, Schneider JG, Baroni TE, Uluçkan O, Heller E, Hurchla MA, Deng H, Floyd D, Berdy A, Prior JL, et al. Dissection of platelet and myeloid cell defects by conditional targeting of the β3-integrin subunit. FASEB Journal 2010; 24: 1117–1127
  • Tropel P, Roullot V, Vernet M, Poujol C, Pointu H, Nurden P, Marguerie G, Tronik-Le Roux D. A 2.7-kb portion of the 5′ flanking region of the murine glycoprotein αIIb gene is transcriptionally active in primitive hematopoietic progenitor cells. Blood 1997; 90: 2995–3004
  • Coller BS, Cheresh DA, Asch E, Seligsohn U. Platelet vitronectin receptor expression differentiates Iraqi-Jewish from Arab patients with Glanzmann's thrombasthenia in Israel. Blood 1991; 77: 75–83
  • Newman PJ, Seligsohn U, Lyman S, Coller BS. The molecular genetic basis of Glanzmann thrombasthenia in the Iraqi-Jewish and Arab populations in Israel. Proceedings of the National Academy of Sciences of the United States of America 1991; 88: 3160–3164
  • Horton MA, Massey HM, Rosenberg N, Nicholls B, Seligsohn U, Flanagan AM. Upregulation of osteoclast α2β1 integrin compensates for lack of αvβ3 vitronectin receptor in Iraqi-Jewish-type Glanzmann thrombasthenia. British Journal of Haematology 2003; 122: 950–957
  • Kunicki TJ, Nugent DJ. The genetics of normal platelet reactivity. Blood 2010; 116: 2627–2634
  • Yarah N, Fisgin T, Duru F, Kara A. Osteopetrosis and Glanzmann's thrombasthenia in a child. Annals of Hematology 2003; 82: 254–256
  • Mory A, Feigelson SW, Yarali N, Kilic SS, Bayhan GI, Gershoni-Baruch R, Etzioni A, Alon R. Kindlin-3: A new gene involved in the pathogenesis of LAD-III. Blood 2008; 112: 2591–2592
  • Schlegelberger B, Grote W, Wiedemann HR. Probable autosomal recessive syndrome with triphalangia of thumbs, thrombasthenia Glanzmann and deafness of internal ear. Klinische Padiatrie 1986; 198: 337–339
  • Nelson EJR, Li J, Mitchell WB, Chandy M, Srivastava A, Coller BS. Three novel β-propeller mutations causing Glanzmann thrombasthenia result in production of normally stable pro-αIIb, but variably impaired progression of pro-αIIbβ3 from endoplasmic reticulum to Golgi. Journal of Thrombosis and Haemostasis 2005; 3: 2773–2783
  • Wilcox DA, Paddock CM, Lyman S, Gill JC, Newman PJ. Glanzmann thrombasthenia resulting from a single amino acid substitution between the second and third calcium-binding domains of GPIIb. Journal of Clinical Investigation 1995; 95: 1553–1560
  • Ferrer M, Fernandez-Pinel M, Gonzalez-Manchon C, Gonzalez J, Ayuso M, Parilla R. A mutant (Arg327->His) GPIIb associated to thrombasthenia exerts a dominant negative effect in stably transfected CHO cells. Thrombosis and Haemostasis 1996; 76: 292–301
  • Kannan M, Ahmad F, Yadav BK, Kumar R, Choudhry VP, Saxena R. Molecular defects in ITGA2B and ITGB3 genes in patients with Glanzmann thrombasthenia. Journal of Thrombosis and Haemostasis 2009; 7: 1878–1885
  • Vinciguerra C, Bordet JC, Beaune G, Grenier C, Dechavanne M, Négrier C. Description of 10 new mutations in platelet glycoprotein IIb (αIIb) and glycoprotein IIIa (β3) genes. Platelets 2001; 12: 486–495
  • Tucci M, De Palma R, Lombardi L, Rodolico G, Berrino L, Dammacco F, Silvestris F. β3 integrin subunit mediates the bone resorbing function exerted by cultured myeloma plasma cells. Cancer Research 2009; 69: 6738–6746
  • Nurden AT, Didry D, Kieffer N, McEver RP. Residual amounts of glycoproteins IIb and IIIa may be present in the platelets of most patients with Glanzmann's thrombasthenia. Blood 1985; 65: 1021–1024
  • Nurden AT, Kunicki TJ, Nurden P, Fiore M, Martins N, Heilig R, Pillois X. Mutation analysis for a patient with Glanzmann thrombasthenia who produced a landmark isoantibody to the αIIbβ3 integrin. Journal of Thrombosis and Haemostasis, 2010; 8: 1866–1868

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.