In a familial Mediterranean fever prevalent region, are familialMediterranean fever and Behçet’s disease associated ?
Yazarlar (4)
Prof. Dr. Özgür ALPARSLAN Tokat Gaziosmanpaşa Üniversitesi, Türkiye
Buğra Han Egeli
Yeltekin Demirel Sivas Cumhuriyet Üniversitesi, Türkiye
Serdal Uğurlu İstanbul Üniversitesi-Cerrahpaşa, Türkiye
| Makale Türü |
Diğer (Teknik, not, yorum, vaka takdimi, editöre mektup, özet, kitap krıtiği,
araştırma notu, bilirkişi raporu ve benzeri)
(SCI, SSCI, AHCI, SCI-Exp dergilerinde yayınlanan teknik not,
editöre mektup, tartışma, vaka takdimi ve özet türünden makale)
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| Dergi Adı | Pediatric Rheumatology (Q1) | ||
| Dergi ISSN | 1546-0096 Dergi Bilgileri (2019) | ||
| Dergi Tarandığı Indeksler | SCI-Expanded | ||
| Makale Dili | İngilizce | Basım Tarihi | 05-2019 |
| Cilt / Sayı / Sayfa | 17 / 1 / 38–39 | DOI | 10.1186/s12969-019-0313-x |
| Makale Linki | https://link.springer.com/journal/12969 | ||
| UAK Araştırma Alanları |
Çocuk Sağlığı ve Hastalıkları Hemşireliği
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| Özet |
| Objectives: To generate new Mvkmutant mouse models of MKD that mimic the human disease.Methods: CRISPR/Cas9 gene editing was used to generate different heterozygous mouse lines with hypomorphic mutations in exon 11 of theMvkgene: a V377I substitution (the most frequent mutation in MKD), and 8, 13 or 91 base pair deletions. These lines were then crossed to generate homozygous MvkV377I/V377Ior MvkV377I/deIcom-pound heterozygous mice. To assess the effect of the mutations on the mevalonate pathway, we measured the accumulation of unprenylated Rab GTPases and Rap1A using an in vitroprenylation assay and western blotting. For quantification of inflammatory cytokines in serum, as well as in culture supernatants from LPS-stimulated PBMCs and bone marrow macrophages, we used ELISA and multiplex cytokine bead arrays.Results: Homozygous mice carrying complete loss of function deletion mutations were not viable and, as expected, wildtype and heterozygous Mvkmutant mice had normal protein prenylation. However, in a similar pattern to patient PBMCs, MvkV377I/deIimmune cells from blood, spleen and bone marrow had a dramatic accumulation of unprenylated Rab and Rap1A GTPases, with a much milder defect in MvkV377I/V377Icells. This is consistent with reportedly less severe clinical disease associated with the homozygous V377I mutation. Furthermore, MvkV377I/deI mice had slightly elevated levels of inflammatory serum cytokines, including IL-6 and G-CSF, and cultures of PBMCs and bone marrow macrophages responded more robustly to LPS stimulation than cells from control mice. Interestingly … |
| Anahtar Kelimeler |
BM Sürdürülebilir Kalkınma Amaçları
| Atıf Sayıları | |
| Yöksis | 4 |