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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.

SUBMITTER: Castaldo I

PROVIDER: S-EPMC3584504 | biostudies-literature | 2013 Apr

REPOSITORIES: biostudies-literature

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Can telomere shortening in human peripheral blood leukocytes serve as a disease biomarker of Friedreich's ataxia?

Castaldo Imma I Vergara Paola P Pinelli Michele M Filla Alessandro A De Michele Giuseppe G Cocozza Sergio S Monticelli Antonella A

Antioxidants & redox signaling 20121213 11

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 shor ...[more]

PMID: 23146029

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