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Mutation in immune response gene linked to Alzheimer's disease

19 November 2012

By Helen Brooks

Appeared in BioNews 682

A single genetic mutation increases the risk of developing Alzheimer's disease by threefold, say scientists from two independent research groups. The mutation occurs in the gene, TREM2, which is involved in the immune system, specifically in clearing up cell and protein debris.

'The discovery of variant TREM2 is important because it confers high risk for Alzheimer's and because the gene's normal biological function has been shown to reduce immune response that may contribute to the disease', says lead author Dr Kari Stefánsson, CEO of deCODE Genetics, Iceland where one of the studies was carried out.

Genetic variants for the risk of developing the neurological disease, late-onset Alzheimer's, have previously been identified. However these variants have generally been associated with very low risk. Researchers at University College London and deCODE Genetics analysed the genomes of over 25,000 people and showed variations in the TREM2 gene increase the risk of developing Alzheimer's disease substantially.

Researchers found a specific mutation in TREM2, called R47H, occurred four times as often in patients with Alzheimer's compared to controls who did not have the disease. Although this mutation was found to be very rare, occurring in only 0.3 percent of the total population, it was shown to increase the likelihood of developing Alzheimer's disease by threefold.

Dr Rita Guerreiro who led the study at University College London said: 'These findings are particularly exciting because they give us a clear signal about what could be going wrong in Alzheimer's disease. While this genetic mutation is very rare its effect on the immune system is a strong indicator that this system may be a key player in the disease'.

In Alzheimer's, the protein beta-amyloid accumulates in plaques in the brain, causing brain cells to die. The mutation in TREM2 is suggested to reduce the ability of immune cells in the brain to remove these plaques.  

'This is a landmark finding and reveals important new clues about the genetic causes of Alzheimer's disease', said Dr Eric Karran, director of Alzheimer's UK that part funded the study at University College London. 'For these findings to live up to their potential and make a difference to people's lives, it's crucial that research building on this work continues and the role of the immune system in Alzheimer's is fully explored'.

The studies were both published in the New England Journal of Medicine.

New York Times | 14 November 2012
deCODE genetics (press release) | 14 November 2012
UCL (press release) | 15 November 2012
Mail Online | 14 November 2012
Reuters | 14 November 2012
The New England Journal of Medicine | 14 November 2012
The New England Journal of Medicine | 14 November 2012
The New England Journal of Medicine | 14 November 2012


04 November 2013 - by Dr Rachel Brown 
Eleven genetic variants linked to late-onset Alzheimer's disease have been found by the largest study on the genetics behind the condition to date...
15 April 2013 - by Siobhan Chan 
Genetic variants linked to higher Alzheimer's disease risk in African-Americans have been found by a team at Columbia University, USA...
08 April 2013 - by Dr Linda Wijlaars 
Three new genetic markers for Alzheimer's disease have been identified, pointing to a less well-known mechanism to explain how the disease develops...
18 February 2013 - by Michelle Downes 
Hormone replacement therapy, used to treat the symptoms of menopause, may play a role in slowing the ageing process in women who carry a certain gene variant, claim scientists...
03 December 2012 - by Daryl Ramai 
Scientists have discovered a gene that controls the immune response against infection...

15 October 2012 - by Dr Nicola Davis 
Up to three experimental drugs will be trialled to determine if they can be used to prevent the development of Alzheimer's disease...
20 August 2012 - by Dr Sophie Pryor 
Families with higher levels of a protein linked to inflammation may be at a reduced risk of dementia....
16 July 2012 - by Dr Linda Wijlaars 
A rare genetic mutation, found in about one percent of Icelanders in a recent study, appears to protect against Alzheimer's disease and age-related cognitive decline. It is the first mutation found to act in this way and could be a target for future drug therapy...
18 June 2012 - by Dr Linda Wijlaars 
A gene known to be found in many Alzheimer's patients has been linked to the way insulin is processed in the body. The finding could prove there is a link between Alzheimer's disease and type 2 diabetes, explaining why people with diabetes face a higher risk of developing Alzheimer's....
26 September 2011 - by George Frodsham 
Researchers have identified a strong link between a genetic fault and two common neurological disorders. Two independent studies have found that the mutation is common in patients with amyotrophic lateral sclerosis (ALS) and patients with frontotemporal dementia (FTD), particularly if the disease is familial...

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