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Platelet storage pool deficiency associated with inherited abnormalities of
the inner ear in the mouse pigment mutants muted and mocha
RT Swank, M Reddington, O Howlett and EK Novak
Department of Molecular and Cell Biology, Roswell Park Cancer Institute,
Buffalo, NY 14263.
Several inherited human syndromes have combined platelet, auditory, and/or
pigment abnormalities. In the mouse the pallid pigment mutant has
abnormalities of the otoliths of the inner ear together with a bleeding
abnormality caused by platelet storage pool deficiency (SPD). To determine
if this association is common, two other mouse pigment mutants, muted and
mocha, which are known to have inner ear abnormalities, were examined for
hematologic abnormalities. Both mutants had prolonged bleeding times
accompanied by abnormalities of dense granules as determined by whole mount
electron microscopy of platelets and by labeling platelets with mepacrine.
When mutant platelets were treated with collagen, there was minimal
secretion of adenosine triphosphate and aggregation was reduced. Lysosomal
enzyme secretion in response to thrombin treatment was partially reduced in
muted platelets and markedly reduced in mocha platelets. Similar reductions
in constitutive lysosomal enzyme secretion from kidney proximal tubule
cells were noted in the two mutants. These studies show that several
mutations that cause pigment dilution and platelet SPD are associated with
abnormalities of the inner ear. Also, these mutants, like previously
described mouse pigment mutants, are models for human Hermansky-Pudlak
syndrome and provide additional examples of single genes that
simultaneously affect melanosomes, lysosomes, and platelet dense granules.
Volume 78,
Issue 8,
pp. 2036-2044,
10/15/1991
Copyright © 1991 by The American Society of Hematology
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