New Alzheimer's Disease Risk Gene Discovered

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Two articles released online today by The New England Journal of Medicine (NEJM) report on a newly identified risk gene for Alzheimer's disease. These studies advance our knowledge of the genetics of Alzheimer's disease and demonstrate real progress in basic research to discover the causes of Alzheimer's.

The NEJM articles report on a mutation on a gene known as TREM2 that the authors say confers about three times additional risk of developing Alzheimer's. At the same time, the mutation seems to be quite rare, occurring in less than one-half of 1 percent of the study population. Because of the rarity and relatively modest risk increase, it will most likely not be the basis for genetic testing.

The gene mutation is related to reduced control of factors that lead to inflammation. While the findings need replication to enhance their credibility, this discovery is made more plausible by the connection of the identified gene to inflammation, which has been shown in many research studies to have a role in the brains of people with Alzheimer's — though we don't know yet exactly what that role is.

Genetic mutations that are confirmed as Alzheimer's risk genes tell us more about the disease — often that Alzheimer's is somehow connected to the regular function of the gene. And they may become targets for therapies or point us to new targets for therapies.

It takes a lot of work, time and money to find a molecule or compound that will have the desired effect and to make that molecule into a safe and effective drug. Next steps for this research include (1) further confirmation of these findings by other scientists in different populations and (2) evaluating this gene mutation as an indicator of targets for therapy.

Alzheimer's Association Involvement

These new discoveries were made through the application of a relatively new tool — whole genome sequencing — to people with Alzheimer's disease. Whole genome sequencing determines all 6 billion letters in an individual's DNA in one comprehensive analysis.

In July 2012, the Alzheimer's Association announced a visionary new partnership to launch the first, pioneering "Big Data" project for Alzheimer's disease. New research funding from the Alzheimer's Association and the Brin Wojcicki Foundation is enabling scientists to obtain whole genome sequences on the largest cohort of individuals related to a single disease — more than 800 people enrolled in the Alzheimer's Disease Neuroimaging Initiative (ADNI). A distinguishing feature of ADNI is that its research data — including brain scans, blood and cerebrospinal fluid samples, and cognitive profiles — are made freely available without delay to scientists around the globe.

It is vitally important that more funding be made available for Alzheimer's research so that we generate more of these kinds of scientific advancements and quickly capitalize on them. The first-ever U.S. National Plan to Address Alzheimer's Disease was unveiled in May, and now this plan must be effectively implemented. An additional $100 million is needed now for Alzheimer's research, education, outreach and community support. Let Congress know that Alzheimer's research funding is a priority for you. To join the fight, visit alz.org.

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The Alzheimer's Association is the leading voluntary health organization in Alzheimer care, support and research. Our mission is to eliminate Alzheimer's disease through the advancement of research; to provide and enhance care and support for all affected; and to reduce the risk of dementia through the promotion of brain health.

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