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Master Thesis

Vers la modélisation physiopathologique de la granulomatose septique chronique pour de nouvelles approches thérapeutiques‎ : développement de la culture des cellules souches pluripotentes induites issues de fibroblastes de patients

Abstract : Chronic granulomatous disorder (CGD) is a rare immune inherited disorder in which patients suffer from recurrent life-threatening bacterial and fungal infections early in childhood. The most frequent form is the X-linked CGD (X-CGD) due to mutations in the CYBB gene encoding NOX2 one of the sub-units of the phagocytic NADPH oxidase complex, responsible for the production of microbicidal reactive oxygen species (ROS). To develop new therapeutic approaches, cellular models mimicking the pathology are needed. Induced Pluripotent Stem Cells (iPSCs) are an invaluable tool for physiopathological modelization. The purpose of this project was to develop in our laboratory the culture and the methods of characterization of iPSCs in order to model CGD. For this, iPSCs reprogrammed from healthy and X-CGD patient's fibroblasts have successfully been cultured on feeder cells or on extracellular matrix. On one hand, their pluripotency ability was assessed with the expression of pluripotency markers by immunofluorescence and flow cytometry and on the other hand, with the generation of embryoid bodies composed of cells derived from the three embryonic germ layers. The karyotype analysis showed no chromosomal abnormalities. Finally, the patient's mutation responsible for the X-CGD was found in the XCGD-iPS cell line. Control and X-CGD iPS cells will be differentiated into hematopoietic progenitors and use to generate X-CGD humanized mouse model and to obtain mature phagocytic cells for the development of new therapies.
Document type :
Master Thesis
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https://dumas.ccsd.cnrs.fr/dumas-00875988
Contributor : Jean-Hugues Morneau <>
Submitted on : Wednesday, October 23, 2013 - 3:54:00 PM
Last modification on : Tuesday, May 11, 2021 - 11:36:17 AM
Long-term archiving on: : Friday, April 7, 2017 - 5:24:26 PM

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  • HAL Id : dumas-00875988, version 1

Citation

Julie Brault. Vers la modélisation physiopathologique de la granulomatose septique chronique pour de nouvelles approches thérapeutiques‎ : développement de la culture des cellules souches pluripotentes induites issues de fibroblastes de patients. Sciences pharmaceutiques. 2013. ⟨dumas-00875988⟩

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