title: Can telomere shortening in human peripheral blood leukocytes serve as a disease biomarker of Friedreich's ataxia?
abstract: Enhanced oxidative stress and inflammation contribute to telomere erosion. Friedreich's ataxia is a neurodegenerative disorder caused by a reduction in frataxin expression that results in mitochondrial dysfunction and oxidative damage. Furthermore, frataxin deficiency induces a strong activation of inflammatory genes and neuronal death. We investigated telomere length (TL) in peripheral blood leukocytes of 37 patients with Friedreich's ataxia and 36 controls. We noted a significant telomere shortening in patients with Friedreich's ataxia compared to healthy controls (p=0.03). We also found a correlation between TL and disease duration (p=0.001). Our observations lead to the hypothesis that the TL of human peripheral blood leukocytes may serve as a biomarker of Friedreich's ataxia that could be used as an outcome measure in clinical trials.
authors.affiliation: Department of Cellular and Molecular Biology and Pathology, University of Naples "Federico II," Naples, Italy. icastald@unina.it
authors.forename: Imma
authors.initials: I
authors.lastname: Castaldo
authors.forename: Paola
authors.initials: P
authors.lastname: Vergara
authors.forename: Michele
authors.initials: M
authors.lastname: Pinelli
authors.forename: Alessandro
authors.initials: A
authors.lastname: Filla
authors.forename: Giuseppe
authors.initials: G
authors.lastname: De Michele
authors.forename: Sergio
authors.initials: S
authors.lastname: Cocozza
authors.forename: Antonella
authors.initials: A
authors.lastname: Monticelli
mesh_terms: D000328:Adult; D015415:Biomarkers; D016022:Case-Control Studies; D005260:Female; D005621:Friedreich Ataxia / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D007962:Leukocytes / Q000378:metabolism*; D008297:Male; D059506:Telomere Shortening; D055815:Young Adult
chemical_list: D015415:Biomarkers