Megakaryocytes of patients with MYH9-related thrombocytopenia present an altered proplatelet formation

Thrombosis and Haemostasis

Volumn 102, Issue 1, 2009, Pages 90-96

  Pecci, Alessandro ^a   Malara, Alessandro ^a   Badalucco, Stefania ^a   Bozzi, Valeria ^a   Torti, Mauro ^a   Balduini, Carlo L ^a   Balduini, Alessandra ^a  

^a UNIVERSITY OF PAVIA   (Italy)

Author keywords

Inherited thrombocytopenia; MYH9 related disease; Myosin IIA; Proplatelet formation

Indexed keywords

COLLAGEN TYPE 1;

ADULT; ARTICLE; CASE REPORT; CELL DIFFERENTIATION; CONTROLLED STUDY; FEMALE; GENE; GENE MUTATION; HUMAN; MEGAKARYOCYTE; MYH9 GENE; PRIORITY JOURNAL; THROMBOCYTE RELEASE REACTION; THROMBOCYTOPENIA; THROMBOCYTOPOIESIS;

ADULT; BLOOD PLATELETS; CELL DIFFERENTIATION; CELLS, CULTURED; FEMALE; HETEROZYGOTE; HUMANS; MALE; MEGAKARYOCYTES; MOLECULAR MOTOR PROTEINS; MYOSIN HEAVY CHAINS; POINT MUTATION; STEM CELLS; THROMBOCYTOPENIA;

EID: 67749093040     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH09-01-0068     Document Type: Article

References (26)

1. Seri M, Cusano R, Gangarossa S, et al. Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Hegglin/Fechtner Syndrome Consortium. Nat Genet 2000; 26: 103-105.
2. Heath KE, Campos-Barros A, Toren A, et al. Non-muscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin Anomaly and Fechtner, Sebastian, Epstein and Alport-like syndromes. Am J Hum Genet 2001; 69: 1033-1045.
3. Seri M, Pecci A, Di Bari F, et al. MYH9-related disease: May Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness. Medicine (Baltimore) 2003; 82: 203-215.
4. Pecci A, Panza E, Pujol-Moix N, et al. Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease. Hum Mutat 2008; 29: 409-417.
5. Italiano JE Jr, Lecine P, Shivdasani RA, et al. Blood platelets are assembled principally at the ends of proplatelet processes produced by differentiated megakaryocytes. J Cell Biol 1999; 147: 1299-1312.
6. Avecilla ST, Hattori K, Heissig B, et al. Chemokine-mediated interaction of hematopoietic progenitors with the bone marrow vascular niche is required for thrombopoiesis. Nat Med 2004; 10: 64-71.
7. Patel SR, Hartwig JH, Italiano JE Jr. The biogenesis of platelets from megakaryocyte proplatelets. J Clin Invest 2005; 115: 3348-3354.
8. Larson MK, Watson SP. A product of their environment: do megakaryocytes rely on extracellular cues for proplatelet formation? Platelets 2006; 17: 435-440.
9. Sabri S, Jandrot-Perrus M, Bertoglio J, et al. Differential regulation of actin stress fiber assembly and proplatelet formation by ?2?1 integrin and GPVI in human megakaryocytes. Blood 2004; 104: 3117-3125.
10. Sabri S, Foudi A, Boukour S, et al. Deficiency in the Wiskott-Aldrich protein induces premature proplatelet formation and platelet production in the bone marrow compartment. Blood 2006; 108: 134-140.
11. Larson MK, Watson SP. Regulation of proplatelet formation and platelet release by integrin αIIbβ3. Blood 2006; 108: 1509-1514.
12. Chang Y, Auradé F, Larbret F, et al. Proplatelet formation is regulated by the Rho/ROCK pathway. Blood 2007; 109: 4229-4236.
13. Chen Z, Naveiras O, Balduini A, et al. The May-Hegglin anomaly gene MYH9 is a negative regulator of platelet biogenesis modulated by the Rho-ROCK pathway. Blood 2007; 110: 171-179.
14. Balduini A, Pallotta I, Malara A, et al. Adhesive receptors, extracellular proteins, and myosin IIA orchestrate proplatelet formation by human megakaryocytes. J Thromb Haemost 2008; 6: 1900-1907.
15. Eckly A, Strassel C, Freund M, et al. Abnormal megakaryocyte morphology and proplatelet formation in mice with megakaryocyte-restricted MYH9 inactivation. Blood 2009; 113: 3182-3189.
16. Balduini A, Malara A, Pecci A, et al. Proplatelet formation in heterozygous Bernard-Soulier syndrome type Bolzano. J Thromb Haemost 2009; 7: 478-484.
17. Pecci A, Canobbio I, Balduini A, et al. Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutations. Hum Mol Genet 2005; 14: 3169-3178.
18. Williams N, Levine RF. The origin, development and regulation of megakaryocytes. Br J Haematol 1982; 52: 173-180.
19. Balduini A, Pecci A, Lova P, et al. Expression, activation, and subcellular localization of the Rap1 GTPase in cord blood-derived human megakaryocytes. Exp Cell Res 2004; 300: 84-93.
20. Heynen MJ, Blockmans D, Verwilghen RL, et al. Congenital macrothrombocytopenia, leukocyte inclusions, deafness and proteinuria: functional and electron microscopy observations on platelet and megakaryocytes. Br J Haematol 1988; 70: 441-448.
21. Godwin HA, Ginsburg AD. May-Hegglin Anomaly: a defect of megakaryocyte fragmentation? Br J Haematol 1974; 26: 117-128.
22. Maupin P, Phillips CL, Adelstein RS, et al. Differential localization of myosin-II isozymes in human cultured cells and blood cells. J Cell Sci 1994; 107: 3077-3090.
23. Kunishima S, Matsushita T, Kojima T, et al. Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations. Lab Invest 2003; 83: 115-122.
24. Kunishima S, Hamaguchi M, Saito H. Differential expression of wild-type and mutant NMMHC-IIA polypeptides in blood cells suggests cell-specific regulation mechanisms in MYH9 disorders. Blood 2008; 111: 3015-3023.
25. Franke JD, Dong F, Rickoll WL, et al. Rod mutations associated with MYH9-related disorders disrupt non-muscle myosin-IIA assembly. Blood 2005; 105: 161-169.
26. Rojnuckarin P, Kaushansky K. Actin reorganization and proplatelet formation in murine megakaryocytes: the role of protein kinase C alpha. Blood 2001; 97: 154-161.