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Identifier 000451134
Title Investigation of neutrophil's activation in acohort of patients with chronic idiopathic neutropenia (CIN) that carry specific MEFV gene variants
Alternative Title Διερεύνηση της ενεργοποίησης των ουδετερόφιλων σε μια κοορτή ασθενών με χρόνια ιδιοπαθή ουδετεροπενία που φέρουν διαφορετικές γενετικές παραλλαγές στο MEFV γονίδιο
Author Καρκεμπετζάκη, Αναστασία
Thesis advisor Παπαδάκη, Ελένη
Reviewer Μπερτσιάς, Γεώργιος
Γουλιέλμος, Γεώργιος
Abstract MEFV gene mutations are associated with Familial Mediterranean Fever (FMF), an autoinflammatory disease whose pathogenesis is based on neutrophils’ activation with entry in autophagy and extrusion of Neutrophil Extracellular Traps (NETs) decorated with the cytokine IL-1b, creating a vicious cycle of excessive inflammation. Such mutations were recently found in increased frequency in a cohort of patients with Chronic Idiopathic Neutropenia (CIN). Here, we investigated an association between MEFV mutations in CIN patients and neutrophils’ activation evident with increased NETosis, as in the case of FMF. The experimental procedure we followed was to co-culture healthy PMNs with serum from patients and either use the supernatants of the cultures to quantify NETs with sytox green staining for extracellular DNA and dsDNA/MPO complexes ELISA or to use the treated cells for NETs immunostaining using confocal microscopy. In addition, PMNs directly isolated from patients were used to detect their direct response as regards to spontaneous NETosis induction. After comparison of CIN patients with likely pathogenic MEFV mutations, CIN patients negative for MEFV mutations and healthy individuals we concluded that NETosis isn’t significantly increased in patients with MEFV mutations. Ex vivo culture of patients PMNs and microscopic observation gave us an indication that CIN patients, regardless of their MEFV variations, present an increase in NETosis as compared to healthy individuals. However, NETosis is only one process that indicates neutrophils’ activation. So, based on FMF’s molecular mechanism, neutrophils should also be studied for autophagy and production of inflammatory cytokines. Then, their activation status will be clear and we could conclude whether MEFV mutations affect CIN patients’ phenotype and if not, whether there is a counterbalancing effect of CIN and FMF’ mechanisms co-existence. This information will not only characterize the particular cohort of patients and potentially change the categorization criteria and follow up approaches, but will also shed light to CIN’s pathogenesis mechanism which is not clearly defined yet.
Language English
Subject Γονίδιο μεσογειακού πυρετού
Issue date 2022-07-29
Collection   School/Department--School of Medicine--Department of Medicine--Post-graduate theses
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