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.
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
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