The DNA region associated with Huntington's disease expands as the years go by, contributing to the progression of the disease. This was revealed by a study by the University of Glasgow and University College London.
Scientists have analyzed the DNA of two groups of people with the Huntington-related genetic abnormalities. From the observations it emerged that the mutations grow over time and change. The more time passes, the more CAG repeats grow and the worse the disease gets. In some people, however, there were additional AAC breaks. These slowed down the rate at which the repetitions increased, slowing the progression of the disease. For a more in-depth analysis, it emerged that the phenomenon would be connected to particular genetic variants, all associated with the growth of CAG.
The discovery could have enormous implications in the therapeutic field. They could help scientists predict how Huntington's disease will evolve, how severe the symptoms will be and how quickly it will degenerate.
This will also have repercussions on the development of new treatments. Starting from this research, the team is working on ways to reproduce the observed phenomenon. Above all, it is looking for the genes responsible for the severity of the disease, so as to alleviate at least some of the symptoms. To this end, they have developed a new DNA sequencing technique, which will allow us to better observe CAG mutations.