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King's College London - Health: More than a medical matter

Rare genetic mutation protective against Alzheimer's disease

16 July 2012

By Linda Wijlaars

Appeared in BioNews 665

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.

The mutation is located in the amyloid-beta precursor protein (APP) gene and prevents the gene's product from forming the protein plaques that are typical of Alzheimer's disease.

Amyloid-beta plaques have long been the suspected cause of Alzheimer's disease, although researchers lack conclusive evidence; the plaques could in fact be a consequence of other biochemical changes associated with the disease. This study provides strong support that amyloid-beta plaques are the real culprits.

'If amyloid-beta plaques were confirmed as the cause of Alzheimer's, it would bolster efforts to develop drugs that block their formation in order to treat or prevent the ravaging condition', reports an article in Nature News, paraphrasing Dr Kari Stefansson, chief executive of deCODE Genetics in Reykjavik, Iceland, who led the research.

Dr Stefansson added that the study indicated 'that Alzheimer's, and the cognitive decline that awaits all of us if we survive long enough, seems to be mediated through the same mechanism'.

The mutation leads to a slightly different form of APP being produced. The altered section of this APP variant sits next to the site where enzymes split APP into the amyloid-beta proteins that form Alzheimer's plaques. The researchers think the mutation makes it more difficult for the cleaving enzymes, called BACE enzymes, to find the cleavage site.

'We've found the first protective mutation in Alzheimer's disease and provided proof of concept for using BACE inhibitors to treat the disease', Dr Stefansson told the Guardian. 'So if big pharma manages to develop an effective BACE inhibitor, it should probably be put into the drinking water of elderly people'.

Dr Stefansson said that he plans to use his company's platform to investigate rare mutations relevant to other diseases such as ovarian cancer and gout next. 'The rare variants are not going to explain a large amount [of disease], but they are going to provide very key mechanistic insights into how all of this happens', he told Nature News.



02 September 2013 - by Michelle Downes 
Age-related memory loss could be the result of low levels of protein in the brain, according to researchers at Columbia University Medical Center (CUMC)... [Read More]
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... [Read More]
08 April 2013 - by 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... [Read More]
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... [Read More]
17 December 2012 - by Holly Rogers 
The US biotechnology company Amgen will buy deCODE Genetics, which provides products and services for genome analysis, for $415 million... [Read More]

18 June 2012 - by 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.... [Read More]
05 March 2012 - by Maria Botcharova 
An enzyme associated with memory loss can be blocked to reverse symptoms of Alzheimer's disease in mice, a study has shown... [Read More]
20 February 2012 - by Dr Caroline Hirst 
Skin cells from volunteers with Down's syndrome have been turned into brain cells in order to provide a new model for researchers to study Alzheimer's disease... [Read More]
11 April 2011 - by Alison Cranage 
International scientists including researchers at Cardiff University, UK and the University of Pennsylvania, USA have discovered five genetic variations associated with Alzheimer's disease. The findings are published in two papers in the journal Nature Genetics... [Read More]

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