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Telomerase expression in amyotrophic lateral sclerosis (ALS) patients.

Authors: Bruna B. De Felice, Anna A. Annunziata, Giuseppe G. Fiorentino, Francesco F. Manfellotto, Raffaella R. D'Alessandro, Rita R. Marino, Marco M. Borra, Elio E. Biffali
Published: 08/21/2014, Journal of human genetics


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.

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