Alzheimer's Disease Linked to Gene in Study

Scientists have identified a gene which they believe could raise the risk of developing Alzheimer's disease.

Researchers think a gene named Mucin 6 could play a role in the development of late onset Alzheimer's disease, the most common for of the neurodegenerative condition which affects an estimated 5.8 million Americans.

Dr. Peter Nelson, an expert in Alzheimer's and professor at the University of Kentucky, co-authored the paper published in the Journal of Neuropathology & Experimental Neurology. He explained to Newsweek that he believes a genetic mutation in some people could impact a gene nearby Mucin 6, called AP2A2. While Mucin 6 is expressed in the gut by creating mucus, AP2A2 has an important role in brain function, he said.

The researchers compared the genomic data from around 5,142 people with Alzheimer's disease, and around 4,889 people who didn't. This flagged up a portion of the genome which the team felt they should explore further, Nelson explained.

Next, they studied 292 subjects who had donated their bodies to science, and compared the findings to the original DNA analyses. They found a link between a version of Mucin 6 and the build-up of tau, a protein which is a hallmark of Alzheimer's disease.

The study "highlights that—even for late-onset Alzheimer's disease—it's mostly a genetic disease, and there are currently unknown genetic risk factors that are worthy of exploration," argued Nelson.

However, he said the finding "should be viewed with caution" until the results are replicated in other participants. But argued: "it is surprising that in a relatively small sample size we could see a relatively large impact that replicated."

Asked what inspired him to carry out the research, Nelson said: "My biggest inspiration is my grandmother, who died with Alzheimer's."

Nelson hopes the research will ultimately guide successful clinical trials "both in helping to improve our ability to diagnose people at risk, and to guide them to therapies and preventative measures that actually work."

Dr James Connell, research manager at Alzheimer's Research U.K. who didn't work on the study, told Newsweek: "Alzheimer's is a disease and genetic risk factors play a role in its development. For most people with Alzheimer's no single gene is responsible for the disease, rather a combination of factors play a role in influencing a person's risk.

Connell explained: "The findings don't tell us if this genetic variant caused tau tangles. We need to see further detailed investigations to study the role this gene may be playing in the development of Alzheimer's.

"While we can't change the genes we inherit, research shows that changing our lifestyle can help to support a healthy brain," he advised.

"The best current evidence suggests that, as well as staying physically and mentally active, eating a healthy balanced diet, not smoking, drinking only within the recommended limits and keeping weight, cholesterol and blood pressure in check are all good ways to support a healthy brain as we age," said Connell.