Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropenia View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2019-03-07

AUTHORS

Laurence Duplomb, Julie Rivière, Gaëtan Jego, Romain Da Costa, Arlette Hammann, Jessica Racine, Alain Schmitt, Nathalie Droin, Claude Capron, Marie-Anne Gougerot-Pocidalo, Laurence Dubrez, Bernard Aral, Arnaud Lafon, Patrick Edery, Jamal Ghoumid, Edward Blair, Salima El Chehadeh-Djebbar, Virginie Carmignac, Julien Thevenon, Julien Guy, François Girodon, Jean-Noël Bastie, Laurent Delva, Laurence Faivre, Christel Thauvin-Robinet, Eric Solary

ABSTRACT

Cohen syndrome (CS) is a rare genetic disorder due to mutations in VPS13B gene. Among various clinical and biological features, CS patients suffer from inconsistent neutropenia, which is associated with recurrent but minor infections. We demonstrate here that this neutropenia results from an exaggerate rate of neutrophil apoptosis. Besides this increased cell death, which occurs in the absence of any endoplasmic reticulum stress or defect in neutrophil elastase (ELANE) expression or localization, all neutrophil functions appeared to be normal. We showed a disorganization of the Golgi apparatus in CS neutrophils precursors, that correlates with an altered glycosylation of ICAM-1 in these cells, as evidenced by a migration shift of the protein. Furthermore, a striking decrease in the expression of SERPINB1 gene, which encodes a critical component of neutrophil survival, was detected in CS neutrophils. These abnormalities may account for the excessive apoptosis of neutrophils leading to neutropenia in CS. KEY MESSAGES: Cohen syndrome patients' neutrophils display normal morphology and functions. Cohen syndrome patients' neutrophils have an increased rate of spontaneous apoptosis compared to healthy donors' neutrophils. No ER stress or defective ELA2 expression or glycosylation was observed in Cohen syndrome patients' neutrophils. SerpinB1 expression is significantly decreased in Cohen syndrome neutrophils as well as in VPS13B-deficient cells. More... »

PAGES

1-13

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00109-019-01754-4

DOI

http://dx.doi.org/10.1007/s00109-019-01754-4

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1112585892

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30843084


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