A recent study published in Lancet Neurology reveals there may be a link between mutations in the MSH3 DNA repair gene (located on chromosome 5) and Huntington’s disease (HD).

HD researchers from the University College London and Cardiff University evaluated patients’ cognitive and movement symptoms from known study cohort databases. Their results identified an association between the MSH3 gene and disease progression. More specifically, meta-analysis of the TRACK-HD study database revealed this gene to be an indicator of disease burden. This newfound knowledge strengthens the case for considering the MSH3 gene as a possible indicator for HD, as well as making it a potential future therapeutic target for HD treatment.


1. Shanley M. Study Discovers New Gene Responsible for Huntington’s Disease Progression. RareDiseaseReport website. Published July 06, 2017. http://www.raredr.com/news/new-gene-responsible-for-hd-progression. Accessed July 15, 2017.

2. Moss DJH, Pardiñas AF, Langbehn D, et al. Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study. Lancet Neurol. 2017;pii:S1474-4422(17)30161-8. [Epub ahead of print] http://www.thelancet.com/journals/laneur/article/PIIS1474-4422(17)30161-8/fulltext