caa a22 4500 445364661 CHVBK 20180317142926.0 cr unu---uuuuu 170323e20111101xx s 000 0 eng 10.1007/s10048-011-0298-1 doi (NATIONALLICENCE)springer-10.1007/s10048-011-0298-1 Shorter telomeres in patients with cerebral autosomal dominant arteriopathy and leukoencephalopathy (CADASIL) [Elektronische Daten] [Michele Ragno, Luigi Pianese, Michele Pinelli, Serena Silvestri, Gabriella Cacchiò, Fabio Di Marzio, Maria Scarcella, Francesco Coretti, Fabiana Altamura, Antonella Monticelli, Imma Castaldo] CADASIL is a hereditary systemic vasculopathy which affects mainly small cerebral arteries and is caused by mutations in the Notch3 gene. Misfolding of Notch3 is linked to endoplasmic reticulum stress and increased reactive oxygen species, which may result in dysfunction of endothelial cells, inflammation and ischemia. Oxidative stress and inflammation may induce a rapid telomere shortening in peripheral blood leukocytes (PBLs). The aim of this study was to assess the telomere length in PBLs from 29 patients with a genetic diagnosis of CADASIL by using a modified quantitative real-time polymerase chain reaction based assay. PBL telomere length was significantly shorter in CADASIL patients (T/S ratio = 0.17, 95% CI, 0.14-0.20) than in the controls (T/S ratio = 0.31, 95% CI, 0.27-0.35, t-test p < 0.001). Moreover, patients with functional dependence displayed shorter telomeres than those with functional independence (p = 0.039). Our data provide the first evidence that PBL telomere length is shortened in CADASIL disease, and this may be a systemic oxidative stress indicator in CADASIL patients, providing a possible biomarker of disease progression and for future therapeutic strategies. Springer-Verlag, 2011 CADASIL nationallicence NOTCH3 gene nationallicence Telomere nationallicence Oxidative stress nationallicence Ragno Michele Division of Neurology, Mazzoni Hospital, ASUR ZT 13, Ascoli Piceno, Italy aut Pianese Luigi Molecular Medicine Laboratory, Mazzoni Hospital, ASUR Z T13, Ascoli Piceno, Italy aut Pinelli Michele Department of Cellular and Molecular Biology and Pathology, University "Federico II”, Via Sergio Pansini 5, 80131, Naples, Italy aut Silvestri Serena Molecular Medicine Laboratory, Mazzoni Hospital, ASUR Z T13, Ascoli Piceno, Italy aut Cacchiò Gabriella Division of Neurology, Mazzoni Hospital, ASUR ZT 13, Ascoli Piceno, Italy aut Di Marzio Fabio Division of Neurology, Mazzoni Hospital, ASUR ZT 13, Ascoli Piceno, Italy aut Scarcella Maria Division of Neurology, Mazzoni Hospital, ASUR ZT 13, Ascoli Piceno, Italy aut Coretti Francesco Department of Cellular and Molecular Biology and Pathology, University "Federico II”, Via Sergio Pansini 5, 80131, Naples, Italy aut Altamura Fabiana Department of Cellular and Molecular Biology and Pathology, University "Federico II”, Via Sergio Pansini 5, 80131, Naples, Italy aut Monticelli Antonella Department of Cellular and Molecular Biology and Pathology, University "Federico II”, Via Sergio Pansini 5, 80131, Naples, Italy aut Castaldo Imma Department of Cellular and Molecular Biology and Pathology, University "Federico II”, Via Sergio Pansini 5, 80131, Naples, Italy aut neurogenetics Springer-Verlag 12/4(2011-11-01), 337-343 1364-6745 12:4<337 2011 12 10048 https://doi.org/10.1007/s10048-011-0298-1 text/html Onlinezugriff via DOI 1 brief-communication jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10048-011-0298-1 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Ragno Michele Division of Neurology, Mazzoni Hospital, ASUR ZT 13, Ascoli Piceno, Italy aut NATIONALLICENCE 700 1- Pianese Luigi Molecular Medicine Laboratory, Mazzoni Hospital, ASUR Z T13, Ascoli Piceno, Italy aut NATIONALLICENCE 700 1- Pinelli Michele Department of Cellular and Molecular Biology and Pathology, University "Federico II”, Via Sergio Pansini 5, 80131, Naples, Italy aut NATIONALLICENCE 700 1- Silvestri Serena Molecular Medicine Laboratory, Mazzoni Hospital, ASUR Z T13, Ascoli Piceno, Italy aut NATIONALLICENCE 700 1- Cacchiò Gabriella Division of Neurology, Mazzoni Hospital, ASUR ZT 13, Ascoli Piceno, Italy aut NATIONALLICENCE 700 1- Di Marzio Fabio Division of Neurology, Mazzoni Hospital, ASUR ZT 13, Ascoli Piceno, Italy aut NATIONALLICENCE 700 1- Scarcella Maria Division of Neurology, Mazzoni Hospital, ASUR ZT 13, Ascoli Piceno, Italy aut NATIONALLICENCE 700 1- Coretti Francesco Department of Cellular and Molecular Biology and Pathology, University "Federico II”, Via Sergio Pansini 5, 80131, Naples, Italy aut NATIONALLICENCE 700 1- Altamura Fabiana Department of Cellular and Molecular Biology and Pathology, University "Federico II”, Via Sergio Pansini 5, 80131, Naples, Italy aut NATIONALLICENCE 700 1- Monticelli Antonella Department of Cellular and Molecular Biology and Pathology, University "Federico II”, Via Sergio Pansini 5, 80131, Naples, Italy aut NATIONALLICENCE 700 1- Castaldo Imma Department of Cellular and Molecular Biology and Pathology, University "Federico II”, Via Sergio Pansini 5, 80131, Naples, Italy aut NATIONALLICENCE 773 0- neurogenetics Springer-Verlag 12/4(2011-11-01), 337-343 1364-6745 12:4<337 2011 12 10048 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer