Beta-actin, a critical player in cellular functions ranging from cell motility and the maintenance of cell shape to transcription regulation, was evaluated in the erythrocyte membranes from patients with typical Rett syndrome (RTT) and methyl CpG binding protein 2 (MECP2) gene mutations. RTT, affecting almost exclusively females with an average frequency of 1:10,000 female live births, is considered the second commonest cause of severe cognitive impairment in the female gender. Evaluation of beta-actin was carried out in a comparative cohort study on red blood cells (RBCs), drawn from healthy control subjects and RTT patients using mass spectrometry-based quantitative analysis. We observed a decreased expression of the beta-actin isoforms (relative fold changes for spots 1, 2 and 3: -1.82 ± 0.15, -2.15 ± 0.06, and -2.59 ± 0.48, respectively) in pathological RBCs. The results were validated by western blotting and immunofluorescence microscopy. In addition, beta-actin from RTT patients also showed a dramatic increase in oxidative posttranslational modifications (PTMs) as the result of its binding with the lipid peroxidation product 4-hydroxy-2-nonenal (4-HNE). Our findings demonstrate, for the first time, a beta-actin down-regulation and oxidative PTMs for RBCs of RTT patients, thus indicating an altered cytoskeletal organization.
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|Titolo:||Beta-actin deficiency with oxidative posttranslational modifications in Rett syndrome erythrocytes: insights into an altered cytoskeletal organization.|
|Citazione:||Cortelazzo, A., De Felice, C., Pecorelli, A., Belmonte, G., Signorini, C., Leoncini, S., et al. (2014). Beta-actin deficiency with oxidative posttranslational modifications in Rett syndrome erythrocytes: insights into an altered cytoskeletal organization. PLOS ONE, 9(3), 1-9.|
|Appare nelle tipologie:||1.1 Articolo in rivista|
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|Cortelazzo et al. 2014 Beta-Actin Deficiency with Oxidative Posttranslational Modifications in Rett Syndrome Erythrocytes Insights.pdf||Post-print||NON PUBBLICO - Accesso privato/ristretto||Administrator Richiedi una copia|