What environmental changes to DNA are involved in AMD?

Overview

Age-related macular degeneration (AMD) is one of the leading causes of sight loss in the UK. The risk of getting AMD is affected by environmental factors such as smoking and also by genetics. The link between the two isn’t always clear.

Genes are the sections of DNA that produce the proteins that do various jobs inside our body’s cells. Different proteins are produced in different types of cell because the genes are switched on (ie making protein) or switched off (not making protein).

In this project the team is trying to understand more about environmental factors that switch genes on or off (epigenetics). They want to know which genes are switched on or off in eye tissue from people with the ‘dry’ form of AMD compared to ‘controls’ who don’t have it. There is currently no treatment for dry AMD.

In a previous study they used a method that’s normally used to look for genetic (rather than epigenetic) differences between people with dry AMD and controls. So because the method was borrowed for a new purpose, they need to repeat it, to make sure they can trust the results. Then they need to repeat it again using a different method, to check that both methods agree. Finally they are comparing these results from eye tissue to results from blood samples.

The aim is to find out which proteins are active (or not) compared to controls, in people with AMD. That will mean we can find out what those proteins do and how they’re linked to the condition. Ultimately that could mean new targets for treatment or new ‘biomarkers’ to help detect or monitor AMD.