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Can leukocyte telomere shortening be a possible biomarker to track Huntington's disease progression

Articolo
Data di Pubblicazione:
2019
Abstract:
HD is an autosomal dominant neurodegenerative disease, caused by a CAG trinucleotide repeat expansion in the first exon of the HTT gene encoding the huntingtin protein. The mutant protein contains an expanded polyglutamine sequence that confers a toxic gain-of-function and causes neurodegeneration. Leukocyte telomere length (LTL) measurement seems to possess distinctive features required for a suitable biomarker to detect HD progression: it is easy to obtain, readily quantifiable and reproducible, and closely linked to the pathophysiology of HD. In premanifest HD individuals, LTL shows a very significant linear relationship with the estimated years to the clinical onset of HD and could predict the time at clinical diagnosis with good probability levels.
Tipologia CRIS:
01.01 Articolo in rivista
Keywords:
Huntington Disease; Leukocyte Telomere Length; Biomarkers
Elenco autori:
Peconi, Martina; Scarabino, Daniela; Mantuano, Elide
Autori di Ateneo:
MANTUANO ELIDE
SCARABINO DANIELA
Link alla scheda completa:
https://iris.cnr.it/handle/20.500.14243/390574
Pubblicato in:
NEURAL REGENERATION RESEARCH
Journal
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