Quantification of a novel dense granule protein (granulophysin) in platelets of patients with dense granule storage pool deficiency.

Abstract:

:An antigen-capture sandwich enzyme-linked immunosorbent assay (ELISA) was developed for a novel protein granulophysin, a constituent of the platelet dense granule (DG) membrane and used to characterize patients with dense granule storage pool deficiency (delta-SPD). The assay uses two monoclonal antibodies against the protein, one of which is conjugated to peroxidase. Purified DGs, an enriched source of the protein, were used for the standard curve. Granulophysin levels were only low in forms of delta-SPD associated with albinism. Granulophysin levels in platelet homogenates of 30 patients with the Hermansky-Pudlak syndrome form of delta-SPD were 1/4 to 1/5 of levels in controls or obligate heterozygotes. Two patients with the Chediak-Higashi form of delta-SPD syndrome also had markedly reduced levels of granulophysin. Patients with other forms of delta-SPD had normal levels of granulophysin. Two sisters with delta-SPD in one family had normal granulophysin present in empty dense granule membrane vesicles. Three members of another family with delta-SPD had low DG counts but normal granulophysin levels, indicating that in this group the level of granulophysin was maintained despite the reduction in granule formation. Thus, granulophysin quantitation facilitates characterization of delta-SPD patients and may provide clues to the nature of defective granules in delta-SPD subtypes.

journal_name

Blood

journal_title

Blood

authors

Shalev A,Michaud G,Israels SJ,McNicol A,Singhroy S,McMillan EM,White JG,Witkop CJ,Nichols WL,Greenberg AH

subject

Has Abstract,Author List Incomplete

pub_date

1992-09-01 00:00:00

pages

1231-7

issue

5

eissn

0006-4971

issn

1528-0020

journal_volume

80

pub_type

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