Neural Regeneration Research ›› 2019, Vol. 14 ›› Issue (10): 1709-1710.doi: 10.4103/1673-5374.257522

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Can leukocyte telomere shortening be a possible biomarker to track Huntington’s diseaseprogression?

Elide Mantuano 1，artina Peconi1，aniela Scarabino 2   

  1. 1 CNR Institute of Translational Pharmacology, Rome, Italy;
    2 CNR Institute of Molecular Biology and Pathology Rome, Italy
  • Online:2019-10-15 Published:2019-10-15
  • Contact: Daniela Scarabino, daniela.scarabino@cnr.it
  • Supported by:

    This work was supported by Sapienza University of Rome (2017/2018), and European Huntington’s Disease Network (EHDN), funded by CHDI foundation, Inc (0942).

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Abstract:

Huntington’s disease (HD): 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. Moreover, several studies indicate that loss of the normal protein beneficial functions, contribute to the pathology. Triplet expansion over 40 repeats are fully penetrant and invariably lead to manifest HD in the fourth or fifth decade of life.