| Literature DB >> 35716694 |
Sarah J Tabrizi1, Carlos Estevez-Fraga2, Willeke M C van Roon-Mom3, Michael D Flower2, Rachael I Scahill2, Edward J Wild2, Ignacio Muñoz-Sanjuan4, Cristina Sampaio5, Anne E Rosser6, Blair R Leavitt7.
Abstract
Huntington's disease is the most frequent autosomal dominant neurodegenerative disorder; however, no disease-modifying interventions are available for patients with this disease. The molecular pathogenesis of Huntington's disease is complex, with toxicity that arises from full-length expanded huntingtin and N-terminal fragments of huntingtin, which are both prone to misfolding due to proteolysis; aberrant intron-1 splicing of the HTT gene; and somatic expansion of the CAG repeat in the HTT gene. Potential interventions for Huntington's disease include therapies targeting huntingtin DNA and RNA, clearance of huntingtin protein, DNA repair pathways, and other treatment strategies targeting inflammation and cell replacement. The early termination of trials of the antisense oligonucleotide tominersen suggest that it is time to reflect on lessons learned, where the field stands now, and the challenges and opportunities for the future.Entities:
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Year: 2022 PMID: 35716694 PMCID: PMC7613206 DOI: 10.1016/S1474-4422(22)00121-1
Source DB: PubMed Journal: Lancet Neurol ISSN: 1474-4422 Impact factor: 59.935