Evidence that abnormal platelet functions in human Chédiak-Higashi syndrome are the result of a lack of dense bodies.
The structure and functions of platelets from three patients with the Chédiak-Higashi syndrome were examined. Electron-microscopic observations revealed a large reduction in the number of serotonin-storage granules or dense bodies but otherwise normal ultrastructure and normal amounts of alpha-granules and catalase-positive granules. The number of mepacrine-labeled granules was also reduced. Platelets contained normal amounts of beta-thromboglobulin and Platelet Factor 4. The platelet release reaction studied with thrombin as the inducer was impaired. The serotonin uptake by the patients' platelets was low and not inhibited by reserpine, and its metabolism was increased. These findings clearly show that platelets from human Chédiak-Higashi syndrome are deficient in the storage pool of dense granule substances and suggest that this granule defect has an influence on the release mechanism of other granule constituents.
D001792:Blood Platelets / Q000473:pathology* / Q000648:ultrastructure; D002609:Chediak-Higashi Syndrome / Q000097:blood*; D002675:Child, Preschool; D003594:Cytoplasmic Granules; D005260:Female; D005966:Glucuronidase / Q000097:blood; D006801:Humans; D008247:Lysosomes / Q000201:enzymology; D008297:Male; D010974:Platelet Aggregation; D010978:Platelet Factor 4 / Q000032:analysis; D012701:Serotonin / Q000097:blood; D001620:beta-Thromboglobulin / Q000097:blood
D001620:beta-Thromboglobulin; D012701:Serotonin; D010978:Platelet Factor 4; D005966:Glucuronidase