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Alzheimer's Disease Health Center

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Researchers Find Clues for Early Alzheimer's

Experts Discover How a Genetic Mutation Causes Early-Onset Alzheimer's

Practical Applications

Most efforts to develop drugs to treat Alzheimer's have focused on ridding the brain of microscopic protein fragments known as beta-amyloid, Nixon says. Some researchers say problems in the production, accumulation, or disposal of beta-amyloid fragments are what causes Alzheimer's.

But Nixon says his findings suggest there are alternative pathways that also could be targets of drug therapy and that the toxic buildup of amyloid may not be responsible for all the ''havoc'' in the brain.

Although the finding may seem to be helpful only for early-onset disease, not so, Nixon says. "The gene is mutated only in early onset, but the disruption it causes is seen not only in this form but in all forms," he says. The same type of damage is seen in regular Alzheimer's but perhaps occurs by a different mechanism, he says. What they learn in the future about how to correct the effects of the presenilin 1 mutations may apply to late-onset disease, too.

Genetic Mutations and Alzheimer's: Other Opinions

The study is preliminary, cautions William Thies, PhD, the chief medical and scientific officer for the Alzheimer's Association, one of the organizations funding the study.

The new report is the first to describe the presenilin1 gene's "ability to act as a cleanup agent," Thies says. ''It may become useful," he says, although more research is needed.

''One of the important things to remember here is, it's a mouse model," Thies says.

He acknowledges the finding is not of immediate benefit to Alzheimer's patients but may eventually prove useful in terms of treatment. "It may be more important for children of people with Alzheimer's," he says.

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