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New Genetic Mutation May Be a Risk Factor for Alzheimer's Disease

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genetic mutation may increase your risk for Alzheimers iStockphoto/Thinkstock

In the United States, 5.4 million adults -- one in eight older Americans -- has Alzheimer's disease, according to the Alzheimer's Association.

Alzheimer's disease is a common type of dementia, a degenerative neurological disorder in which patients suffer decline in memory, thinking and language.

No clear cause of Alzheimer's disease has been found, though research has noted several risk factors, including genetics.

The first gene identified as a risk factor for Alzheimer's disease is APOE-e4, one of the three common types of the APOE gene. The other two forms of the APOE gene are APOE-e2 and APOE-e3.

The Alzheimer's Association explained that everyone inherits a copy of APOE (e2, e3 or e4). If an individual inherits one copy of the APOE- e4, her risk for developing Alzheimer's disease increases.

Having two copies of the APOE-e4 gene increases the risk even more, but the Alzheimer's Association noted that it does not mean it is certain the individual will develop a disease.

New research has possibly identified another gene that raises an individual's risk for developing Alzheimer's disease. Research was conducted at two separate labs that came to the same conclusion.

A mutation to the gene TREM2 interferes in the brain preventing plaque buildup. Plaque buildups are one of the hallmark changes to the brain with Alzheimer's disease.

The mutation of the TREM2 gene is rare. The New York Times reported that it is present in about 2 percent of patients with Alzheimer's disease.

In comparison, it is estimated that the APOE e-4 gene causes between 20 to 25 percent of Alzheimer's disease cases, according to the Alzheimer's Association.

In studies with mice, the mutation to the TREM2 gene affected the mice's white blood cells, causing them to be less effective in preventing beta amyloid from building up.

Two different studies were conducted that found the link between increased risk for Alzheimer's disease and the mutated TREM2 gene. One study included 2, 261 Icelanders, in which the researchers looked at their genomes, focusing on TREM2.

They found that Alzheimer's disease patients have the mutation more often. In addition, they found the mutation more frequently in individuals who did not have a diagnosis, but were displaying memory problems and may later develop the disease.

The second study did not originally focus on Alzheimer's disease. The researchers were looking at sclerosing leukoencephalopathy, which is caused by two copies of mutated TREM2 genes.

Sclerosing leukoencephalopathy is a disorder that affects the bones and the brain. But when their focus changed to looking at individuals with just one mutated TREM2 gene, they noted that individuals were likely to have Alzheimer's disease.

The results of these studies provide valuable information into the functioning of Alzheimer's disease.


Alzheimer's Association. Alzheimer's Facts and Figures. Web. 28 November 2012.

MedlinePlus Medical Encyclopedia. Alzheimer's Disease. Web. 28 November 2012.

Alzheimer's Association. The Search for Alzheimer's Causes and Risk Factors. Web. 28 November 2012.

New York Times. Alzheimer's Tied to Mutation Harming Immune Response. Web. 28 November 2012.

Reviewed November 29, 2012
by Michele Blacksberg RN
Edited by Jody Smith

Add a Comment1 Comments

EmpowHER Guest

Apparently this illness starts many years before the first signs. The plaque formations are possibly only one factor in the progression of the illness. I think the drug makers have been missing the root causes of the illness.
reverse Alzheimer's disease

May 17, 2013 - 9:33am
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