| Literature DB >> 21285520 |
Ignacio Munoz-Sanjuan1, Gillian P Bates.
Abstract
Huntington disease (HD) is a dominantly inherited neurodegenerative disorder that results from expansion of the polyglutamine repeat in the huntingtin (HTT) gene. There are currently no effective treatments for this devastating disease. Given its monogenic nature, disease modification therapies for HD should be theoretically feasible. Currently, pharmacological therapies aimed at disease modification by altering levels of HTT protein are in late-stage preclinical development. Here, we review current efforts to develop new treatments for HD based on our current understanding of HTT function and the main pathological mechanisms. We emphasize the need to enhance translational efforts and highlight the importance of aligning the clinical and basic research communities to validate existing hypotheses in clinical studies. Human and animal therapeutic trials are presented with an emphasis on cellular and molecular mechanisms relevant to disease progression.Entities:
Mesh:
Year: 2011 PMID: 21285520 PMCID: PMC3026740 DOI: 10.1172/JCI45364
Source DB: PubMed Journal: J Clin Invest ISSN: 0021-9738 Impact factor: 14.808