How the genetics of fat metabolism influence AMD development

Dr Samantha de Silva, University of Oxford - £24,930

Establishing the link between the apolipoprotein E (APOE) gene and lipid (fat) metabolism and learning what effect this has on the development of AMD.

What is the problem?

The APOE gene provides instructions for making a protein called apolipoprotein E. This protein combines with fats (lipids) in the body to form molecules called lipoproteins. Lipoproteins are responsible for packaging cholesterol and other fats and carrying them through the bloodstream. Genes can vary slightly from one person to another and a variant of APOE, known as APOE2, is known to be linked to the development of AMD. That link will be examined with this research.

What are they doing?

The research will look at people who are homozygous for APOE2 (have two copies of the gene, one from each parent) to see if this causes the early changes in the retina characteristic of AMD. This cohort will break down the lipids from their diet differently from those with APOE and the research will establish if this change in metabolism contributes to AMD.

How can this help?

Understanding of the role of lipid metabolism in AMD development may allow future treatments to be targeted around which variant of APOE a person has.