Skip to content
Please donate

Scientists claim Alzheimer's Breakthrough

Published on 16 November 2012 11:30 AM

A genetic deficiency said to increase the risk of someone developing Alzheimer's disease has been pinpointed by researchers.

The discovery of the defect may well be the most important gene research development for those investigating the disease.


Data from around 25,000 people was analysed by an international team of scientists, leading to the linking of a rare variant of the Trem2 gene with an increased risk of Alzheimer's.

The gene is connected clinically to a person's immune system.

The investigation was led by Dr Rita Guerreiro who works at University College London's Institute of Neurology.

'These findings are particularly exciting because they give us a clear signal about what could be going wrong in Alzheimer's disease. While the genetic mutation we found is extremely rare, its effect on the immune system is a strong indicator that this system may be a key player in the disease,' she said.

'The more we can understand about the causes of Alzheimer's, the better our chances of developing treatments that could stop the disease developing.'

'A landmark finding'

Scientists have in the past discovered genes which seem to increase Alzheimer's risk but have not been deemed significant enough to provide a full picture of what causes it.

The Trem2 genetic mutation is said to be present in around 0.3% of people in the world.

Its significance lies in the fact that it raises the chance of a person acquiring the disease by around three-fold, much higher than any other gene which has been linked to the disease over the last two decades.

Alzheimer's Research UK's Dr Eric Karran said: 'This is a landmark finding and reveals important new clues about the genetic causes of Alzheimer's disease. We're pleased to have supported this pioneering study which will have major implications for understanding how Alzheimer's develops, an important step towards designing new treatments.'

Age UK's ongoing relationship with dementia research

Age UK's Head of Research James Goodwin welcomed the news, and commented on the Charity's longstanding relationship with cutting edge research into ageing. He said, 'This breakthrough is tremendous news. We congratulate the UCL research team.

'Research is crucial in identifying and tackling diseases like Alzheimer's, which is often associated with older age. Age UK is proud to have given John Hardy, part of the UCL team, his first grant to research Alzheimer's some years ago.

'We're delighted that this work has now helped lead to these new findings. Age UK continues to work tirelessly to improve later life through high quality research which can make a real difference.'

The research appears in the latest edition of the New England Journal of Medicine.

Donate to support Age UK's cutting edge Research into Ageing

Copyright Press Association 2012

Share this page

Last updated: Dec 05 2018

Become part of our story

Sign up today

Back to top