Exploring the role of epigenetic changes in Alzheimer’s disease

Scientific title: Functional characterisation of ANK1, a novel gene implicated in Alzheimer’s disease

Type of project: PhD studentship - Adam Smith, co-supervised by Professor Jonathan Mill

What do we already know?

Expression of genes relies on a person’s DNA sequence, but an extra level of information is provided by epigenetics. Epigenetic modifications involve chemical tags which are able to turn genes on and off, and can be influenced by the environment that cells are in.

It has been found by this research group that a region of the gene known as ANK1 has a higher level of epigenetic modification in the brains of those with Alzheimer’s disease than those without. This is seen in regions associated with the disease, but not in regions which are generally unaffected or in blood samples taken from the patients during their lifetime. This may explain why some regions of the brain are affected more severely by Alzheimer’s disease while others remain relatively resistant to this damage.

What is this project trying to find out?

This project will look at the extent and location of epigenetic changes of the ANK1 gene in Alzheimer’s disease. This information will then be related to expression levels of the gene and the degree of Alzheimer’s disease as judged from autopsy examination.

How will they do this?

Molecular biology techniques will be used to assess the extent and location of epigenetic changes across the ANK1 gene in post-mortem Alzheimer’s disease brain tissue compared to controls. The abundance of ANK1 products will also be measured. This information will be related to the degree of disease progression to see if there is any relationship. Epigenetic editing techniques will be used to reverse the epigenetic changes in cell model experiments and see the effects this has on the properties of the cell.

Why is it important?

Epigenetic changes are potentially reversible, so identifying pathological epigenetic changes of ANK1 may help to identify new drug targets for Alzheimer’s disease.

Further information

Please click here to find out more about dementia research at Exeter

Please click here for more information about the work of Adam Smith.

Please click here for more information about the work of Dr Katie Lunnon.

Please click here for more information about the work of Professor Jonathan Mill.