AI Article Synopsis
- Huntington's Disease (HD) is linked to a hereditary allele with expanded CAG repeats, which may worsen with age and produce a toxic protein.
- Researchers developed an HD mouse model to differentiate between inherited and age-related genetic expansions.
- By preventing somatic expansion, disease onset was delayed in mice, and a drug called XJB-5-131 was effective in reducing repeat length and mitigating motor decline, indicating potential for pharmacological treatments in HD.
Article Abstract
Huntington's Disease (HD) is caused by inheritance of a single disease-length allele harboring an expanded CAG repeat, which continues to expand in somatic tissues with age. The inherited disease allele expresses a toxic protein, and whether further somatic expansion adds to toxicity is unknown. We have created an HD mouse model that resolves the effects of the inherited and somatic expansions. We show here that suppressing somatic expansion substantially delays the onset of disease in littermates that inherit the same disease-length allele. Furthermore, a pharmacological inhibitor, XJB-5-131, inhibits the lengthening of the repeat tracks, and correlates with rescue of motor decline in these animals. The results provide evidence that pharmacological approaches to offset disease progression are possible.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4527696 | PMC |
| http://dx.doi.org/10.1371/journal.pgen.1005267 | DOI Listing |
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