Professor Darren Monckton, from the University of Glasgow, is the senior author of a study which has identified how genetic changes in the huntingtin gene contributes to Huntington disease progression. This disease is caused be an increase in the numbers of ‘CAG’ repeats in the huntingtin gene. The team have shown that the mutation expands over time, with faster growth tending towards early onset and rapid disease progression. Whereas, late onset disease was found in those who had ‘CAA’ interruptions in the CAG repeats, which slowed the rate at which CAG repeats grew.
The study has been published in EBioMedicine, and has been supported by a number of charities, including Rosetrees.
The findings from this research contribute to a greater understanding into the mechanisms of Huntington disease, and could have offer new potentials for the development of diagnostic testing.
Written by: Rebecca Downing