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Platelet storage pool deficiency in mouse pigment mutations associated with
seven distinct genetic loci
EK Novak, SW Hui and RT Swank
Seven mouse pigment mutants, which have alterations at distinct genes, are
known to have a defect in kidney lysosomal enzyme secretion. Two of these,
beige and pale ear, have a bleeding abnormality associated with a
deficiency in the number of platelet dense granules. In the present study,
five other mutants with defective lysosomal enzyme secretion-- pearl,
pallid, light ear, maroon, and ruby-eye--were likewise found to have
abnormally prolonged bleeding times after experimental injury. Platelet
counts were similar to those of normal mice, but the platelet dense granule
components serotonin, adenosine triphosphate (ATP), and adenosine
diphosphate (ADP) and morphologically identifiable dense granules were
markedly reduced in these mutants. The capacity to accumulate exogenous
3H-serotonin in platelets was reduced 2-3-fold. Thrombin-stimulated
secretion of 3H-serotonin was slightly decreased in all mutants. However,
the seven mutants could be subdivided into three groups based on the degree
of secretion of lysosomal enzymes after thrombin stimulation. Thus, all
seven mouse pigment mutants have symptoms consistent with platelet storage
pool deficiency and may serve as useful animal models for specific types of
human platelet storage pool disease. Also, the results emphasize the
genetic, morphological, and functional interrelatedness of three
organelles: melanosomes, lysosomes, and platelet dense granules.
Volume 63,
Issue 3,
pp. 536-544,
03/01/1984
Copyright © 1984 by The American Society of Hematology
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