scholarly journals Hermansky-Pudlak Syndrome Type 3 in Ashkenazi Jews and Other Non–Puerto Rican Patients with Hypopigmentation and Platelet Storage-Pool Deficiency

2001 ◽  
Vol 69 (5) ◽  
pp. 1022-1032 ◽  
Author(s):  
Marjan Huizing ◽  
Yair Anikster ◽  
Diana L. Fitzpatrick ◽  
Anna B. Jeong ◽  
Maria D’Souza ◽  
...  
Keyword(s):  
Puerto Rican ◽  
Syndrome Type ◽  
Ashkenazi Jews ◽  
Storage Pool ◽  
Platelet Storage ◽  
Hermansky Pudlak Syndrome ◽  
Type 3

scholarly journals Correction of symptoms of platelet storage pool deficiency in animal models for Chediak-Higashi syndrome and Hermansky-Pudlak syndrome

Blood ◽  
1985 ◽  
Vol 66 (5) ◽  
pp. 1196-1201
Author(s):  
EK Novak ◽  
MP McGarry ◽  
RT Swank
Keyword(s):  
Bone Marrow ◽  
Animal Models ◽  
Dense Granule ◽  
Whole Body ◽  
Inherited Disorders ◽  
Humoral Factors ◽  
Storage Pool ◽  
Platelet Storage ◽  
Hermansky Pudlak Syndrome ◽  
Chediak Higashi Syndrome

Two human diseases of platelet storage pool deficiency (SPD), Hermansky- Pudlak syndrome and Chediak-Higashi syndrome, are recessively inherited disorders characterized by hypopigmentation, prolonged bleeding, and normal platelet counts accompanied by a reduction in dense granule number. We have recently described seven independent recessive mutations in the mouse regulated by separate genes which are likely animal models for human SPD. Reciprocal bone marrow transplants were carried out between normal C57BL/6J mice and two of these mutants, beige and pallid, in order to test whether the platelet defects are due to a defect in platelet progenitor cells or to humoral factors. Normal and congenic mutant mice were transplanted with marrow after 950 rad whole body radiation. The long bleeding times and low serotonin concentrations of the two mutants were converted to normal values after transplantation with normal marrow. Likewise, normal mice displayed symptoms of SPD when transplanted with mutant marrow. These studies demonstrate that with each of the two mutations, platelet SPD results from a defect in bone marrow precursor cells. Also, the studies suggest that in severe cases, platelet SPD may be successfully treated by bone marrow transplantation.

Novel mutation in two brothers with Hermansky Pudlak syndrome type 3

2017 ◽  
Vol 67 ◽  
pp. 75-80 ◽  
Author(s):  
Kirstin Sandrock-Lang ◽  
Ingrid Bartsch ◽  
Nina Buechele ◽  
Udo Koehler ◽  
Carl Philipp Simon-Gabriel ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Syndrome Type ◽  
Hermansky Pudlak Syndrome ◽  
Type 3

Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases

2002 ◽  
Vol 20 (6) ◽  
pp. 482-482 ◽  
Author(s):  
Christina R. Hermos ◽  
Marjan Huizing ◽  
Muriel I. Kaiser-Kupfer ◽  
William A. Gahl
Keyword(s):  
Puerto Rican ◽  
Gene Organization ◽  
Syndrome Type ◽  
Novel Mutations ◽  
Hermansky Pudlak Syndrome

Subclinical hypopigmentation of the skin and hair in a Japanese patient with Hermansky–Pudlak syndrome type 3

2019 ◽  
Vol 47 (1) ◽  
Author(s):  
Sonoko Saito ◽  
Ryo Tanaka ◽  
Takashi Sasaki ◽  
Satomi Aoki ◽  
Rieko Yasuhara ◽  
...  
Keyword(s):  
Japanese Patient ◽  
Syndrome Type ◽  
Hermansky Pudlak Syndrome ◽  
Type 3

scholarly journals Platelet storage pool deficiency associated with inherited abnormalities of the inner ear in the mouse pigment mutants muted and mocha

Blood ◽  
1991 ◽  
Vol 78 (8) ◽  
pp. 2036-2044 ◽  
Author(s):  
RT Swank ◽  
M Reddington ◽  
O Howlett ◽  
EK Novak
Keyword(s):  
Inner Ear ◽  
Lysosomal Enzyme ◽  
Enzyme Secretion ◽  
Proximal Tubule Cells ◽  
Dense Granules ◽  
Storage Pool ◽  
Platelet Storage ◽  
Whole Mount ◽  
Hermansky Pudlak Syndrome ◽  
Tubule Cells

Abstract 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.

scholarly journals Abnormal Expression and Subcellular Distribution of Subunit Proteins of the AP-3 Adaptor Complex Lead to Platelet Storage Pool Deficiency in the Pearl Mouse

Blood ◽  
1999 ◽  
Vol 94 (1) ◽  
pp. 146-155 ◽  
Author(s):  
Lijie Zhen ◽  
Shelley Jiang ◽  
Lijun Feng ◽  
Nicholas A. Bright ◽  
Andrew A. Peden ◽  
...  
Keyword(s):  
Cell Line ◽  
Subcellular Distribution ◽  
Mutant Cell ◽  
Mutant Cell Line ◽  
Storage Pool ◽  
Abnormal Expression ◽  
Prolonged Bleeding ◽  
Platelet Storage ◽  
Normal Expression ◽  
Hermansky Pudlak Syndrome

The pearl mouse is a model for Hermansky Pudlak Syndrome (HPS), whose symptoms include hypopigmentation, lysosomal abnormalities, and prolonged bleeding due to platelet storage pool deficiency (SPD). The gene for pearl has recently been identified as the beta3A subunit of the AP-3 adaptor complex. The objective of these experiments was to determine if the expression and subcellular distribution of the AP-3 complex were altered in pearl platelets and other tissues. The beta3A subunit was undetectable in all pearl cells and tissues. Also, expression of other subunit proteins of the AP-3 complex was decreased. The subcellular distribution of the remaining AP-3 subunits in platelets, macrophages, and a melanocyte-derived cell line of pearl mice was changed from the normal punctate, probably endosomal, pattern to a diffuse cytoplasmic pattern. Ultrastructural abnormalities in mutant lysosomes were likewise apparent in mutant kidney and a cultured mutant cell line. Genetically distinct mouse HPS models had normal expression of AP-3 subunits. These and related experiments strongly suggest that the AP-3 complex regulates the biogenesis/function of organelles of platelets and other cells and that abrogation of expression of the AP-3 complex leads to platelet SPD.

Localization and Clathrin binding of the Hermansky-Pudlak syndrome type 3 protein.

2004 ◽  
Vol 17 (4) ◽  
pp. 428-429
Author(s):  
A. Helip-Wooley ◽  
W. Westbroek ◽  
H. Dorward ◽  
R. Boissy ◽  
W. Gahl ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Hermansky Pudlak Syndrome ◽  
Type 3

scholarly journals Melanocyte-Specific Proteins Are Aberrantly Trafficked in Melanocytes of Hermansky-Pudlak Syndrome-Type 3

2005 ◽  
Vol 166 (1) ◽  
pp. 231-240 ◽  
Author(s):  
Raymond E. Boissy ◽  
Bonnie Richmond ◽  
Marjan Huizing ◽  
Amanda Helip-Wooley ◽  
Yang Zhao ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Specific Proteins ◽  
Hermansky Pudlak Syndrome ◽  
Type 3

scholarly journals Sandy: a new mouse model for platelet storage pool deficiency

1991 ◽  
Vol 58 (1) ◽  
pp. 51-62 ◽  
Author(s):  
Richard T. Swank ◽  
Hope O. Sweet ◽  
Muriel T. Davisson ◽  
Madonna Reddington ◽  
Edward K. Novak
Keyword(s):  
Dense Granule ◽  
Recessive Mutation ◽  
Mouse Mutant ◽  
Dense Granules ◽  
Storage Pool ◽  
Platelet Storage ◽  
Autosomal Recessive Mutation ◽  
Acidification Activity ◽  
Hermansky Pudlak Syndrome ◽  
Reduced Rate

SummarySandy (sdy) is a mouse mutant with diluted pigmentation which recently arose in the DBA/2J strain. Genetic tests indicate it is caused by an autosomal recessive mutation on mouse Chromosome 13 near thecrandXtgenetic loci. This mutation is different genetically and hematologically from previously described mouse pigment mutations with storage pool deficiency (SPD). The sandy mutant has diluted pigmentation in both eyes and fur, is fully viable and has prolonged bleeding times. Platelet serotonin levels are extremely low although ATP dependent acidification activity of platelet organelles appears normal. Also, platelet dense granules are extremely reduced in number when analysed by electron microscopy of unfixed platelets. Platelets have abnormal uptake and flashing of the fluorescent dye mepacrine. Secretion of lysosomal enzymes from kidney and from thrombin-stimulated platelets is depressed 2- and 3-fold, and ceroid pigment is present in kidney. Sandy platelets have a reduced rate of aggregation induced by collagen. The sandy mutant has an unusually severe dense granule defect and thus may be an appropriate model for cases of human Hermansky-Pudlak syndrome with similarly extreme types of SPD. It represents the tenth example of a mouse mutant with simultaneous defects in melanosomes, lysosomes and/or platelet dense granules.

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