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Discovery of rare gene mutation good news for Alzheimer’s researchposted on July 19, 2012 - 4:47 pm
I always like to share good news – and last week there was a lot of talk about a study that has been hailed as a breakthrough for Alzheimer’s research. It was significant enough to be reported in the scientific journal Nature and the front page of the New York Times.
In some previous blogs I’ve written about the latest efforts to find preventions or better treatments for Alzheimer’s disease. If you read those or have been tracking the latest science, you know that one of the hallmarks of Alzheimer’s disease is the buildup of a protein called beta amyloid. Brain scans and autopsies show that Alzheimer’s patients have a plaque-like substance caused by excessive amounts of this protein.
The newly published study, conducted by researchers in Iceland, discovered that some people have a genetic mutation that slows the production of beta amyloid. And what they found was that those people didn’t develop Alzheimer’s – even when they had another gene that typically is a very high-risk factor for the disease.
Experts in Alzheimer’s research worldwide are paying attention to this news. They say it is strong evidence supporting the 20-year old theory that beta amyloid is causing Alzheimer’s. Before this study, though, it wasn’t certain if beta amyloid was a cause or just a symptom, the body’s reaction to brain damage.
This is good news for drug research, which has been focused for more than a decade on controlling beta amyloid production. Almost all drug companies are working on developing treatments that tackle this process one way or another. Two years ago, there was some soul searching after a drug called semagacestat, intended to reduce the amount of amyloid in the brain, actually made Alzheimer’s patients worse.
Now Alzheimer’s researchers are saying that controlling beta amyloid production is probably the right approach. However, what’s still unknown is how early this will have to happen for the drug to be effective. Current research indicates that the Alzheimer’s disease is present in the brain many years before someone exhibits symptoms, perhaps decades. To prevent brain damage, a drug regime is likely needed long before the signature plaque appears.
That’s why there are many efforts underway to provide better early detection. Right now, there are only a few medical tests that can help doctors to diagnose Alzheimer’s and typically, they are reserved for someone who is already showing symptoms.
Science can be a frustratingly slow process of trial and error and every discovery raises new questions. But the Iceland research does give me hope that we are on the right track. You can read more about it online in The New York Times.