Open AccessMolecular Defects that Affect Platelet Dense Granules
Author(s) -
Meral GunayAygun,
Marjan Huizing,
William A. Gahl
Publication year - 2004
Publication title -
seminars in thrombosis and hemostasis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 99
eISSN - 1098-9064
pISSN - 0094-6176
DOI - 10.1055/s-2004-835674
Subject(s) - hermansky–pudlak syndrome , wiskott–aldrich syndrome , chédiak–higashi syndrome , platelet , golgi apparatus , oculocutaneous albinism , organelle , vesicle , melanosome , biology , microbiology and biotechnology , wiskott–aldrich syndrome protein , immunology , pathology , medicine , gene , genetics , cytoskeleton , actin cytoskeleton , membrane , cell , endoplasmic reticulum , pulmonary fibrosis , melanin , fibrosis
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 delta-storage pool deficiency, combined alphadelta-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.