Inflammatory Lung Disease in Rett Syndrome
Joint Authors
Rossi, Marcello
Chisci, Glauco
Lonetti, Giuseppina
Vannuccini, Laura
Spina, Donatella
Ginori, Alessandro
Iacona, Ingrid
Hayek, Joussef
Pecorelli, Alessandra
Pizzorusso, Tommaso
Leoncini, Silvia
Cortelazzo, Alessio
Signorini, Cinzia
Ciccoli, Lucia
De Felice, Claudio
Giuseppe, Valacchi
Source
Issue
Vol. 2014, Issue 2014 (31 Dec. 2014), pp.1-15, 15 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2014-03-17
Country of Publication
Egypt
No. of Pages
15
Main Subjects
Abstract EN
Rett syndrome (RTT) is a pervasive neurodevelopmental disorder mainly linked to mutations in the gene encoding the methyl-CpG-binding protein 2 (MeCP2).
Respiratory dysfunction, historically credited to brainstem immaturity, represents a major challenge in RTT.
Our aim was to characterize the relationships between pulmonary gas exchange abnormality (GEA), upper airway obstruction, and redox status in patients with typical RTT (n = 228) and to examine lung histology in a Mecp2-null mouse model of the disease.
GEA was detectable in ~80% (184/228) of patients versus ~18% of healthy controls, with “high” (39.8%) and “low” (34.8%) patterns dominating over “mixed” (19.6%) and “simple mismatch” (5.9%) types.
Increased plasma levels of non-protein-bound iron (NPBI), F2-isoprostanes (F2-IsoPs), intraerythrocyte NPBI (IE-NPBI), and reduced and oxidized glutathione (i.e., GSH and GSSG) were evidenced in RTT with consequently decreased GSH/GSSG ratios.
Apnea frequency/severity was positively correlated with IE-NPBI, F2-IsoPs, and GSSG and negatively with GSH/GSSG ratio.
A diffuse inflammatory infiltrate of the terminal bronchioles and alveoli was evidenced in half of the examined Mecp2-mutant mice, well fitting with the radiological findings previously observed in RTT patients.
Our findings indicate that GEA is a key feature of RTT and that terminal bronchioles are a likely major target of the disease.
American Psychological Association (APA)
De Felice, Claudio& Rossi, Marcello& Leoncini, Silvia& Chisci, Glauco& Signorini, Cinzia& Lonetti, Giuseppina…[et al.]. 2014. Inflammatory Lung Disease in Rett Syndrome. Mediators of Inflammation،Vol. 2014, no. 2014, pp.1-15.
https://search.emarefa.net/detail/BIM-1043638
Modern Language Association (MLA)
De Felice, Claudio…[et al.]. Inflammatory Lung Disease in Rett Syndrome. Mediators of Inflammation No. 2014 (2014), pp.1-15.
https://search.emarefa.net/detail/BIM-1043638
American Medical Association (AMA)
De Felice, Claudio& Rossi, Marcello& Leoncini, Silvia& Chisci, Glauco& Signorini, Cinzia& Lonetti, Giuseppina…[et al.]. Inflammatory Lung Disease in Rett Syndrome. Mediators of Inflammation. 2014. Vol. 2014, no. 2014, pp.1-15.
https://search.emarefa.net/detail/BIM-1043638
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1043638