Research aims to improve understanding of the genetic causes of Alzheimer's disease

Brain Research Trust helped fund Professor John Hardy with his research into Alzheimer’s disease, which he received recognition for his outstanding contribution to science with an election to the Fellowship of the Royal Society.

A condition closely related to Alzheimer’s disease is Progressive Supranuclear Palsy. Professor John Hardy’s research is to improve the understanding of the genetic causes of the condition.

‘We have previously shown that a gene called tau, which causes a build up (of tau protein) in the brains of people with PSP is one risk factor gene. We now want to find all the others.

As part of an international consortium we have been carrying out a full genome analysis... this study has involved every group working on PSP in the world. When we get the data, we will want to use it as a basis to understand how all the genes which are involved in the disease. We had previously shown that tau contributed to the risk of PSP simply because too much of it was made in people with the disease. We suspect that this type of effect is likely to be involved in other genes too.

This research asked the following questions when we find a genetic association with PSP:

a)   Does the genetic change lead to an amino acid change or does it alter the production of the protein from that gene? b)   Does the genetic change lead to an alteration in the production of tau? c)   Do genetic changes which lead to alteration in the production of tau show any evidence for association with PSP?

By answering these three questions, we expect to come a long way towards understanding the genetic risk for PSP and the mechanisms by which the disease is initiated.

If we understand the causes of PSP, it will give us the information to start to design rational therapies for the disease.