Browsing by Subject "Disease severity"

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    Circulating LL37 targets plasma extracellular vesicles to immune cells and intensifies Behçet's disease severity
    (Taylor and Francis, 2017-02) Kahraman, T.; Gucluler, G.; Simsek, I.; Yagci, F. C.; Yildirim, M.; Ozen, C.; Dinc, A.; Gursel, M.; Ikromzoda, L.; Sutlu, T.; Gay, S.; Gursel, I.
    Behçet's disease (BD) activity is characterised by sustained, over-exuberant immune activation, yet the underlying mechanisms leading to active BD state are poorly defined. Herein, we show that the human cathelicidin derived antimicrobial peptide LL37 associates with and directs plasma extracellular vesicles (EV) to immune cells, thereby leading to enhanced immune activation aggravating BD pathology. Notably, disease activity was correlated with elevated levels of circulating LL37 and EV plasma concentration. Stimulation of healthy PBMC with active BD patient EVs induced heightened IL1β, IFNα, IL6 and IP10 secretion compared to healthy and inactive BD EVs. Remarkably, when mixed with LL37, healthy plasma-EVs triggered a robust immune activation replicating the pathology inducing properties of BD EVs. The findings of this study could be of clinical interest in the management of BD, implicating LL37/EV association as one of the major contributors of BD pathogenesis.
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    ItemOpen Access
    Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy
    (Nature Publishing, 2002) Topçu, M.; Akyerli, C.; Sayi, A.; Törüner, G. A.; Koçoǧlu, S. R.; Cimbiş, M.; Özçelik, T.
    Rett syndrome is a severe neurodevelopmental disorder that arises from mutations in the X-linked MECP2 gene. It is almost exclusively seen in girls due to the predominant occurrence of the mutations on the paternal X-chromosome, and also the early postnatal lethal effect of the disease causing mutations in hemizygous boys. We identified a boy with features of classic Rett syndrome who is mosaic for the truncating MECP2 mutation R270X. Chromosome analysis showed normal karyotype. These results indicate that a MECP2 mutation associated with Rett syndrome in females could lead to a similar phenotype in males as a result of somatic mosaicism.