Epigenetic mechanisms in the manifestation of Huntington's disease V1
Research type
Research Study
Full title
Exploring the role of epigenetic mechanisms in the manifestation of Huntington's disease
IRAS ID
348643
Contact name
Katie Lunnon
Contact email
Sponsor organisation
University of Exeter
Duration of Study in the UK
4 years, 0 months, 1 days
Research summary
Huntington’s disease (HD) is a neurodegenerative disease caused by an expansion of typically 40 or more repeats of the DNA code “CAG” in the Huntingtin (HTT) gene. The disease is characterised by movement disturbances, cognitive impairments, and psychiatric symptoms and there is currently no disease-modifying treatment. The size of the CAG repeat is closely associated with the age of symptom onset, with individuals with high numbers of repeats developing the disease at a young age. However, there is variation in the age of symptom onset between individuals with the same CAG repeat length. It is known that the expression of genes relies not only on a person’s specific DNA code (their genome) but can also be altered by an extra level of information called the “epigenome”. Epigenetic processes are chemical tags added to the DNA or histone proteins that turn genes on and off and can be influenced by external factors. We have recently shown robust alterations in two epigenetic marks (DNA methylation (DNAm) and histone acetylation (H3K27ac)) in Alzheimer’s disease (AD) brain. We have also seen DNAm differences in a pilot study of HD brain. We hypothesise that epigenetic mechanisms contribute to the manifestation of HD and plan to use state-of-the art genomic technology and computational approaches to undertake the most comprehensive study of epigenetic mechanisms in HD brain to date.
REC name
South Central - Oxford B Research Ethics Committee
REC reference
24/SC/0365
Date of REC Opinion
4 Nov 2024
REC opinion
Favourable Opinion