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Studies of a second family with the Quebec platelet disorder: evidence that
the degradation of the alpha-granule membrane and its soluble contents are
not secondary to a defect in targeting proteins to alpha- granules
CP Hayward, EM Cramer, WH Kane, S Zheng, M Bouchard, JM Masse and GE Rivard
Department of Pathology, McMaster University, Hamilton, Ontario, Canada.
We recently described a Quebec family with an autosomal dominant bleeding
disorder characterized by mildly reduced-low normal platelet counts, an
epinephrine aggregation defect, multimerin deficiency, and proteolytic
degradation of several, soluble alpha-granular proteins. Similar clinical
features led us to investigate a second family with an unexplained,
autosomal dominant bleeding disorder. The affected individuals had reduced
to normal platelet counts, absent platelet aggregation with epinephrine,
and multimerin deficiency. Their platelet alpha-granular proteins factor V,
thrombospondin, von Willebrand factor, fibrinogen, fibronectin,
osteonectin, and P-selectin were proteolyzed and comigrated with the
degradation products found in patients from the other family. However,
their platelet albumin, IgG, external membrane glycoproteins, CD63 (a
lysosomal and dense granular protein), calpain, and plasma von Willebrand
factor were normal, indicating restriction in the proteins proteolyzed.
Electron microscopy studies indicated preserved alpha-granular
ultrastructure, despite degradation of soluble and membrane alpha-granular
proteins. Immunoelectron microscopy studies of the patients' platelets
indicated that fibrinogen, von Willebrand factor, P-selectin, multimerin,
and factor V were within alpha-granules, with normal to reduced labeling
for these proteins. Pathologic proteolysis of alpha-granular contents,
rather than a defect in targeting proteins to alpha-granules, may be the
cause of the protein degradation in the Quebec platelet disorder.
Volume 89,
Issue 4,
pp. 1243-1253,
02/15/1997
Copyright © 1997 by The American Society of Hematology
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