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Alzheimer's Disease Health Center

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New Clues to Early Onset Alzheimer's

Too much plaque-building protein produced in people with certain genes, study finds


The findings from the new study "are supportive of abnormal turnover of amyloid occurring in people with the genetic mutation decades before the onset of their symptoms," she said.

Researchers conducted the study by comparing 11 carriers of mutated presenilin genes with family members who do not have the mutation. They used advanced scanning technology that can "tag" and then track newly created proteins in the body. With this technology, they tracked the production and clearance of amyloid beta 40 and 42 in the participants' cerebrospinal fluid.

This research gives clinicians a potential "marker" to check when evaluating the Alzheimer's risk of a person with this genetic mutation, Willis said.

"It's an earlier way to identify the first associations of Alzheimer's," she said. "It appears looking at the spinal fluid may be the first way to diagnose this disease."

Even though the research focused on a genetic abnormality faced by a very small percentage of early onset Alzheimer's patients, its new insights into the way amyloid beta is produced and exchanged in the body will help investigations into both early and late onset forms of the disease, said Dean Hartley, director of science initiatives for the Alzheimer's Association.

"The disease pathology is almost identical, when you look at early Alzheimer's compared with the more common sporadic forms of Alzheimer's," Hartley said. "The plaques and tangles that form are nearly identical."

The study also identifies amyloid beta 42 as a potential target for future drug trials, he added.

"One of the reasons we've not made a shot on goal for clinical trials for Alzheimer's disease is we need to understand more about the disease mechanism for Alzheimer's," he said. "There actually have been trials to look at drugs that inhibit [the enzyme that causes the formation of amyloid beta]. They have failed because this particular enzyme doesn't just work on beta amyloid but on other proteins in the body as well. It wasn't really a target-specific drug.

"We're not that far away from clinical trials," Hartley continued. "The question is whether this target is going to turn out to be a safe target."

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