title: Telomerase expression in amyotrophic lateral sclerosis (ALS) patients.
abstract: Telomerase and telomeric complex have been linked to a variety of disease states related to neurological dysfunction. In amyotrophic lateral sclerosis (ALS) patients, telomerase activity, as human telomerase reverse transcriptase (hTERT) expression, has not been characterized yet. Here, for the first time, we characterized telomerase and related pathway in blood sample and spinal cord from ALS patients compared with healthy controls. We found that hTERT expression level was significantly lower in ALS patients and was correlated either to p53 mRNA expression or p21 expression, pointing out the hypothesis that telomerase inhibition could be a pathogenetic contributor to neurodegeneration in ALS. As a consequence of the reduced telomerase activity, we identified shorter telomeres in leukocytes from sporadic ALS patients compared with healthy control group.
authors.affiliation: DISTABIF, Department of Environmental, Biological and Pharmaceutical Sciences and Technologies, University of Naples II, Caserta, Italy.
authors.forename: Bruna
authors.initials: B
authors.lastname: De Felice
authors.affiliation: Division of Respiratory Physiopathology, Monaldi Hospital, Naples, Italy.
authors.forename: Anna
authors.initials: A
authors.lastname: Annunziata
authors.affiliation: Division of Respiratory Physiopathology, Monaldi Hospital, Naples, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Fiorentino
authors.affiliation: DISTABIF, Department of Environmental, Biological and Pharmaceutical Sciences and Technologies, University of Naples II, Caserta, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Manfellotto
authors.affiliation: DISTABIF, Department of Environmental, Biological and Pharmaceutical Sciences and Technologies, University of Naples II, Caserta, Italy.
authors.forename: Raffaella
authors.initials: R
authors.lastname: D'Alessandro
authors.affiliation: Stazione Zoologica 'Anton Dohrn', Naples, Italy.
authors.forename: Rita
authors.initials: R
authors.lastname: Marino
authors.affiliation: Stazione Zoologica 'Anton Dohrn', Naples, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Borra
authors.affiliation: Stazione Zoologica 'Anton Dohrn', Naples, Italy.
authors.forename: Elio
authors.initials: E
authors.lastname: Biffali
mesh_terms: D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000201:enzymology* / Q000235:genetics; D005260:Female; D015870:Gene Expression; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D008875:Middle Aged; D016283:Proto-Oncogene Proteins p21(ras) / Q000235:genetics; D019098:Telomerase / Q000097:blood / Q000134:cerebrospinal fluid / Q000235:genetics / Q000378:metabolism*; D016615:Telomere / Q000378:metabolism; D016159:Tumor Suppressor Protein p53 / Q000235:genetics
chemical_list: C495901:TP53 protein, human; D016159:Tumor Suppressor Protein p53; C509186:TERT protein, human; D019098:Telomerase; C501009:HRAS protein, human; D016283:Proto-Oncogene Proteins p21(ras)