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.
Can leukocyte telomere shortening be a possible biomarker to track Huntington's disease progression
Mantuano Elide;Peconi Martina;Scarabino Daniela
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.