Molecular Defects that Affect Platelet Dense Granules

Meral Gunay-Aygun; Marjan Huizing; William A. Gahl

doi:10.1055/s-2004-835674

Seminars in Thrombosis and Hemostasis, Table of Contents

Semin Thromb Hemost 2004; 30(5): 537-547
DOI: 10.1055/s-2004-835674

Published in 2004 by Thieme Medical Publishers, Inc., 333 Seventh Avenue, New York, NY 10001, USA.

Molecular Defects that Affect Platelet Dense Granules

Meral Gunay-Aygun¹ , Marjan Huizing¹ , William A. Gahl¹ ^, ²

¹Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland
²Clinical Director, National Human Genome Research Institute

Abstract

Platelet dense granules form using mechanisms shared by melanosomes in melanocytes and by subsets of lysosomes in more generalized cells. Consequently, disorders of platelet dense granules can reveal how organelles form and move within cells. Models for the study of new vesicle formation include isolated δ-storage pool deficiency, combined αδ-storage pool deficiency, Hermansky-Pudlak syndrome (HPS), Chediak-Higashi syndrome, Griscelli syndrome, thrombocytopenia absent radii syndrome, and Wiskott-Aldrich syndrome. The molecular bases of dense granule deficiency are known for the seven subtypes of HPS, as well as for Chediak-Higashi syndrome, Griscelli syndrome, and Wiskott-Aldrich syndrome. The gene products involved in these disorders help elucidate the generalized process of the formation of vesicles from extant membranes such as the Golgi.

KEYWORDS

Platelet dense granules - storage pool deficiency - Hermansky-Pudlak syndrome - lysosome-related organelles - intracellular vesicle formation

Full Text

References

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