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

Academic Article
Publication Date:
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.
Iris type:
01.01 Articolo in rivista
Keywords:
Huntington Disease; Leukocyte Telomere Length; Biomarkers
List of contributors:
Peconi, Martina; Scarabino, Daniela; Mantuano, Elide
Authors of the University:
MANTUANO ELIDE
SCARABINO DANIELA
Handle:
https://iris.cnr.it/handle/20.500.14243/390574
Published in:
NEURAL REGENERATION RESEARCH
Journal
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