| Ubiquitin-proteasome-rich cytoplasmic structures in neutrophils of patients with Shwachman-Diamond syndrome. | |
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MedLine Citation:
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PMID: 22271888 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Background. Shwachman-Diamond syndrome is an autosomal recessive disorder with severe bone marrow dysfunction causing neutropenia and increased leukemia risk. Recently, novel particulate cytoplasmic structures, named PaCSs, rich in ubiquitinated and proteasomal proteins, have been detected in epithelial cells and neutrophils from Helicobacter pylori gastritis and several epithelial neoplasms.Design and Methods Blood neutrophils from 13 Shwachman-Diamond syndrome cases, 10 with and three without SBDS gene mutation, and 10 controls were investigated by confocal microscopy and ultrastructural immunocytochemistry using antibodies against ubiquitinated proteins, proteasomes, p62 protein, and Helicobacter pylori VacA, urease and outer membrane proteins.Results. Many extensively disseminated PaCSs, accounting for 22.78+/-5.57% (mean+/-SD) of the total cytoplasm, were found in blood neutrophils from mutated Shwachman-Diamond syndrome patients. PaCSs showed immunoreactivity for polyubiquitinated proteins and proteasomes, but no reactivity for Helicobacter pylori products, which are present in PaCSs of Helicobacter pylori-positive gastritis. Neutrophils from Shwachman-Diamond syndrome patients frequently showed p62-positive autophagic vacuoles and apoptotic changes in 5% of cells. No PaCSs were observed in most control neutrophils; however, in a few cells from two cases, we noted focal development of minute PaCSs, accounting for 0.74+/-0.56% of total cytoplasm (P<0.001 vs PaCSs from mutated Shwachman-Diamond syndrome patients). Neutrophils from non-mutated Shwachman-Diamond-syndrome-like patients resembled controls in two cases, and a third case showed PaCS patterns intermediate between those in control and mutated Shwachman-Diamond syndrome patients. Conclusions. PaCSs are a prominent feature of neutrophils from Shwachman-Diamond syndrome patients. They may help us to understand the mechanism of granulocyte dysfunction and the neoplastic risk of the disease. |
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Authors:
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Vittorio Necchi; Antonella Minelli; Patrizia Sommi; Agostina Vitali; Roberta Caruso; Daniela Longoni; Maria R Frau; Cristina Nasi; Fabiola De Gregorio; Marco Zecca; Vittorio Ricci; Cesare Danesino; Enrico Solcia |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2012-1-22 |
Journal Detail:
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Title: Haematologica Volume: - ISSN: 1592-8721 ISO Abbreviation: - Publication Date: 2012 Jan |
Date Detail:
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Created Date: 2012-1-24 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0417435 Medline TA: Haematologica Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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Policlinico S. Matteo, Pavia; |
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