Twenty-two years after the publication of the paper that identified the gene that causes Huntington’s disease, the collaborative and innovative nature of the HD research community is at it again! In today’s edition of the prestigious journal, Cell, scientists have identified regions of the human genome that can either delay or accelerate the onset of HD. Click here to read the paper.
Specifically, they found that the expression of genetic variants within chromosomes 15 and 8 could accelerate HD onset by 6 and 1.6 years respectively, while expression of a separate variant, also in chromosome 15, could delay HD by 1.4 years.
The data also suggest that the body’s DNA repair mechanisms (specifically a gene named MLH1) may play an important role in the disease process. In all, these data provide us with strong evidence from humans that the course of HD can be modified. It is hoped that further investigation of the regions of chromosomes 15 and 8 that contain the genetic variants associated with altered HD onset could result in the identification of novel therapeutic targets for HD drug development that could possibly slow the onset of disease.
This study is a result of the efforts of hundreds of scientists and clinicians from around the world that make up the Genetic Modifiers of Huntington’s Disease (GeM-HD) Consortium, as well as the participation of thousands of HD patients. Proof again that HD families are making important HD science possible. Thanks to everyone for their time and dedication!