Molecular defects that affect platelet dense granules.
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.
Gunay-Aygun
Meral
M
Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Huizing
Marjan
M
Gahl
William A
WA
D001791:Blood Platelet Disorders / Q000235:genetics* / Q000473:pathology; D001792:Blood Platelets / Q000166:cytology* / Q000473:pathology* / Q000648:ultrastructure; D002609:Chediak-Higashi Syndrome / Q000235:genetics / Q000473:pathology; D005091:Exons; D005786:Gene Expression Regulation; D006197:Hair / Q000473:pathology; D022861:Hermanski-Pudlak Syndrome / Q000235:genetics / Q000473:pathology; D006801:Humans; D008247:Lysosomes / Q000378:metabolism; D008854:Microscopy, Electron; D013921:Thrombocytopenia / Q000235:genetics; D014923:Wiskott-Aldrich Syndrome / Q000235:genetics / Q000473:pathology