Molecular determinants of platelet delta storage pool deficiencies: An update

British Journal of Haematology

Volumn 160, Issue 1, 2013, Pages 5-11

  Masliah Planchon, Julien ^a   Darnige, Luc ^b   Bellucci, Sylvia ^c,d  

^a HÔPITAL ROBERT DEBRÉ   (France)

^b HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

^c HÔPITAL LARIBOISIÈRE   (France)

^d UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

Cellular trafficking; Chediak Higachi syndrome; Hermansky Pudlak syndrome; Molecular analysis; Platelet delta storage pool disease

Indexed keywords

CELL PROTEIN; DESMOPRESSIN; HERMANSKY PUDLAK SYNDROME PROTEIN 1; HERMANSKY PUDLAK SYNDROME PROTEIN 2; HERMANSKY PUDLAK SYNDROME PROTEIN 3; HERMANSKY PUDLAK SYNDROME PROTEIN 4; HERMANSKY PUDLAK SYNDROME PROTEIN 5; HERMANSKY PUDLAK SYNDROME PROTEIN 6; RAB27A PROTEIN; UNCLASSIFIED DRUG;

BIOGENESIS OF LYSOSOME RELATED ORGANELLE COMPLEX 1S6 GENE; CHEDIAK HIGASHI GENE; CHEDIAK HIGASHI SYNDROME; CLINICAL FEATURE; DELTA STORAGE POOL DEFICIENCY; DISEASE ASSOCIATION; DRUG CONTRAINDICATION; DRUG INDICATION; FLOW CYTOMETRY; FLUORESCENCE MICROSCOPY; GENE; GENE IDENTIFICATION; HERMANSKY PUDLAK SYNDROME PROTEIN 1 GENE; HERMANSKY PUDLAK SYNDROME PROTEIN 2 GENE; HERMANSKY PUDLAK SYNDROME PROTEIN 3 GENE; HERMANSKY PUDLAK SYNDROME PROTEIN 4 GENE; HERMANSKY PUDLAK SYNDROME PROTEIN 5 GENE; HERMANSKY PUDLAK SYNDROME PROTEIN 6 GENE; HUMAN; MOLECULAR DYNAMICS; MOLECULAR PATHOLOGY; NONSENSE MUTATION; OCULAR ALBINISM; PRIORITY JOURNAL; PROTEIN FUNCTION; RAB27A GENE; REVIEW; SEQUENCE ANALYSIS; THROMBOCYTE DISORDER; THROMBOCYTE TRANSFUSION;

ANIMALS; CHEDIAK-HIGASHI SYNDROME; HERMANSKI-PUDLAK SYNDROME; HUMANS; PLATELET STORAGE POOL DEFICIENCY;

EID: 84870847242     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/bjh.12064     Document Type: Review

References (38)

1. Alamelu, J. & Liesner, R. (2010) Modern management of severe platelet function disorders. British Journal of Haematology, 149, 813-823.
2. Almeida, A.M., Khair, K., Hann, I. & Liesner, R. (2003) The use of recombinant factor VIIa in children with inherited platelet function disorders. British Journal of Haematology, 121, 477-481.
3. Badolato, R., Prandini, A., Caracciolo, S., Colombo, F., Tabellini, G., Giacomelli, M., Cantarini, M.E., Pession, A., Bell, C.J., Dinwiddie, D.L., Miller, N.A., Hateley, S.L., Saunders, C.J., Zhang, L., Schroth, G.P., Plebani, A., Parolini, S. & Kingsmore, S.F. (2012) Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome. Blood, 119, 3185-3187.
4. Barbosa, M.D., Nguyen, Q.A., Tchernev, V.T., Ashley, J.A., Detter, J.C., Blaydes, S.M., Brandt, S.J., Chotai, D., Hodgman, C., Solari, R.C., Lovett, M. & Kingsmore, S.F. (1996) Identification of the homologous beige and Chediak-Higashi syndrome genes. Nature, 382, 262-265.
5. Bonifacino, J.S. & Dell'Angelica, E.C. (1999) Molecular bases for the recognition of tyrosine-based sorting signals. The Journal of Cell Biology, 145, 923-926.
6. Chen, D., Bernstein, A.M., Lemons, P.P. & Whiteheart, S.W. (2000) Molecular mechanisms of platelet exocytosis: role of SNAP-23 and syntaxin 2 in dense core granule release. Blood, 95, 921-929.
7. Clark, R.H., Stinchcombe, J.C., Day, A., Blott, E., Booth, S., Bossi, G., Hamblin, T., Davies, E.G. & Griffiths, G.M. (2003) Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapse. Nature Immunology, 4, 1111-1120.
8. Cullinane, A.R., Curry, J.A., Carmona-Rivera, C., Summers, C.G., Ciccone, C., Cardillo, N.D., Dorward, H., Hess, R.A., White, J.G., Adams, D., Huizing, M. & Gahl, W.A. (2011) A bloc-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak syndrome type 9. The American Journal of Human Genetics, 88, 778-787.
9. Di Pietro, S.M., Falcón-Pérez, J.M. & Dell'Angelica, E.C. (2004) Characterization of bloc-2, a complex containing the Hermansky-Pudlak syndrome proteins hps3, hps5 and hps6. Traffic, 5, 276-283.
10. Feng, L., Seymour, A.B., Jiang, S., To, A., Peden, A.A., Novak, E.K., Zhen, L., Rusiniak, M.E., Eicher, E.M., Robinson, M.S., Gorin, M.B. & Swank, R.T. (1999) The beta3a subunit gene (AP3B1) of the ap-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness. Human Molecular Genetics, 8, 323-330.
11. Gahl, W.A., Brantly, M., Kaiser-Kupfer, M.I., Iwata, F., Hazelwood, S., Shotelersuk, V., Duffy, L.F., Kuehl, E.M., Troendle, J. & Bernardini, I. (1998) Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). New England Journal of Medicine, 338, 1258-1264.
12. Gordon, N., Thom, J., Cole, C. & Baker, R. (1995) Rapid detection of hereditary and acquired platelet storage pool deficiency by flow cytometry. British Journal of Haematology, 89, 117-123.
13. Huizing, M., Helip-Wooley, A., Westbroek, W., Gunay-Aygun, M. & Gahl, W.A. (2008) Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics. Annual Review of Genomics and Human Genetics, 9, 359-386.
14. Israels, S.J., McNicol, A., Robertson, C. & Gerrard, J.M. (1990) Platelet storage pool deficiency: diagnosis in patients with prolonged bleeding times and normal platelet aggregation. British Journal of Haematology, 75, 118-121.
15. Jedlitschky, G., Tirschmann, K., Lubenow, L.E., Nieuwenhuis, H.K., Akkerman, J.W., Greinacher, A. & Kroemer, H.K. (2004) The nucleotide transporter MRP4 (ABCC4) is highly expressed in human platelets and present in dense granules, indicating a role in mediator storage. Blood, 104, 3603-3610.
16. Jedlitschky, G., Cattaneo, M., Lubenow, L.E., Rosskopf, D., Lecchi, A., Artoni, A., Motta, G., Niessen, J., Kroemer, H.K. & Greinacher, A. (2010) Role of MRP4 (ABCC4) in platelet adenine nucleotide-storage: evidence from patients with delta-storage pool deficiencies. American Journal of Pathology, 176, 1097-1103.
17. Kéreveur, A., Callebert, J., Humbert, M., Hervé, P., Simonneau, G., Launay, J.M. & Drouet, L. (2000) High plasma serotonin levels in primary pulmonary hypertension. Effect of long-term epoprostenol (prostacyclin) therapy. Arteriosclerosis Thrombosis Vascular Biology 20, 2233-2239.
18. Lages, B., Holmsen, H., Weiss, H.J. & Dangelmaier, C. (1983) Thrombin and ionophore a23187-induced dense granule secretion in storage pool deficient platelets: evidence for impaired nucleotide storage as the primary dense granule defect. Blood, 61, 154-162.
19. Li, W., Zhang, Q., Oiso, N., Novak, E.K., Gautam, R., O'Brien, E.P., Tinsley, C.L., Blake, D.J., Spritz, R.A., Copeland, N.G., Jenkins, N.A., Amato, D., Roe, B.A., Starcevic, M., Dell'Angelica, E.C., Elliott, R.W., Mishra, V., Kingsmore, S.F., Paylor, R.E. & Swank, R.T. (2003) Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (bloc-1). Nature Genetics, 35, 84-89.
20. Martina, J.A., Moriyama, K. & Bonifacino, J.S. (2003) Bloc-3, a protein complex containing the Hermansky-Pudlak syndrome gene products hps1 and hps4. The Journal of Biological Chemistry, 278, 29376-29384.
21. Masliah-Planchon, J., Bellucci, S., Darnige, L., Callebert, J., Fischer, A.M. & Tapon-Bretaudière, J. (2011) Absence of mutation in the RAB27B gene in patients with platelet delta-storage pool deficiency. European Journal of Haematology, 86, 350-351.
22. Maurer-Spurej, E., Pittendreigh, C. & Wu, J.K. (2007) Diagnosing platelet delta-storage pool disease in children by flow cytometry. American Journal of Clinical Pathology, 127, 626-632.
23. Morgan, N.V., Pasha, S., Johnson, C.A., Ainsworth, J.R., Eady, R.A., Dawood, B., McKeown, C., Trembath, R.C., Wilde, J., Watson, S.P. & Maher, E.R. (2006) A germline mutation in bloc1s3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8). The American Journal of Human Genetics, 78, 160-166.
24. Nieuwenhuis, H.K. & Sixma, J.J. (1988) 1-desamino-8-d-arginine vasopressin (desmopressin) shortens the bleeding time in storage pool deficiency. Annals of Internal Medecine, 108, 65-67.
25. Nieuwenhuis, H.K., Akkerman, J.W. & Sixma, J.J. (1987) Patients with a prolonged bleeding time and normal aggregation tests may have storage pool deficiency: studies on one hundred six patients. Blood, 70, 620-623.
26. Nurden, A.T., Freson, K. & Seligsohn, U. (2012) Inherited platelet disorders. Haemophilia, 18, 154-160.
27. Oh, J., Bailin, T., Fukai, K., Feng, G.H., Ho, L., Mao, J.I., Frenk, E., Tamura, N. & Spritz, R.A. (1996) Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. Nature Genetics, 14, 300-306.
28. Oh, J., Ho, L., Ala-Mello, S., Amato, D., Armstrong, L., Bellucci, S., Carakushansky, G., Ellis, J.P., Fong, C.T., Green, J.S., Heon, E., Legius, E., Levin, A.V., Nieuwenhuis, H.K., Pinckers, A., Tamura, N., Whiteford, M.L., Yamasaki, H. & Spritz, R.A. (1998) Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity. The American Journal of Human Genetics, 62, 593-598.
29. Polgár, J., Chung, S.H. & Reed, G.L. (2002) Vesicle-associated membrane protein 3 (VAMP-3) and vamp-8 are present in human platelets and are required for granule secretion. Blood, 100, 1081-1083.
30. Polgár, J., Lane, W.S., Chung, S.H., Houng, A.K. & Reed, G.L. (2003) Phosphorylation of SNAP-23 in activated human platelets. The Journal of Biological Chemistry, 278, 44369-44376.
31. Pujol-Moix, N., Hernández, A., Escolar, G., Español, I., Martínez-Brotóns, F. & Mateo, J. (2000) Platelet ultrastructural morphometry for diagnosis of partial delta-storage pool disease in patients with mild platelet dysfunction and/or thrombocytopenia of unknown origin. A study of 24 cases. Haematologica, 85, 619-626.
32. Rajpal, G., Pomerantz, J.M., Ragni, M.V., Waters, J.H. & Vallejo, M.C. (2011) The use of thromboelastography for the peripartum management of a patient with platelet storage pool disorder. International Journal of Obstetric Anesthesia, 20, 173-177.
33. Seligsohn, U. (2012) Treatment of inherited platelet disorders. Haemophilia, 18, 161-165.
34. Swank, R.T., Reddington, M. & Novak, E.K. (1996) Inherited prolonged bleeding time and platelet storage pool deficiency in the subtle gray (sut) mouse. Laboratory Animal Science, 46, 56-60.
35. Tolmachova, T., Abrink, M., Futter, C.E., Authi, K.S. & Seabra, M.C. (2007) Rab27b regulates number and secretion of platelet dense granules. Proceedings of the National Academy of Sciences USA, 104, 5872-5877.
36. Weiss, H.J., Lages, B., Vicic, W., Tsung, L.Y. & White, J.G. (1993) Heterogeneous abnormalities of platelet dense granule ultrastructure in 20 patients with congenital storage pool deficiency. British Journal of Haematology, 83, 282-295.
37. Wilson, S.M., Yip, R., Swing, D.A., O'Sullivan, T.N., Zhang, Y., Novak, E.K., Swank, R.T., Russell, L.B., Copeland, N.G. & Jenkins, N.A. (2000) A mutation in rab27a causes the vesicle transport defects observed in ashen mice. Proceedings of the National Academy of Sciences USA, 97, 7933-7938.
38. Youssefian, T. & Cramer, E.M. (2000) Megakaryocyte dense granule components are sorted in multivesicular bodies. Blood, 95, 4004-4007.