Scientists hope man with killer mutant gene who refuses to die will provide clues to cure disease

Posted: January 4, 2015 at 8:41 am

Doug Whitney has showed no signs of early onset Alzheimers despite having a mutated gene that puts him at high risk of contracting the disease. Photo: Matthew Ryan Williams

Doug Whitney should have died years ago. The 65-year-old resident of Port Orchard, Washington, has a devastating gene mutation that, according to the medical literature, causes early-onset Alzheimer's disease in everyone who inherits it.

The mutation killed Whitney's mother and nine of her 13 siblings, and it killed Whitney's older brother. Every one of them began showing symptoms when they were in their 40s. Most died by their mid-50s.

In the next generation, six cousins died of early-onset Alzheimer's and two others are in the final stages of the disease. One of Whitney's cousin's children also has Alzheimer's.

But Whitney has somehow escaped that fate. His memory is intact and he has no signs of Alzheimer's disease. Researchers want to find out why. They suspect he has another gene mutation that somehow protects him from the horrific Alzheimer's gene mutation or that, at least, substantially delays the disease's onset.


So Whitney has become exhibit A in a new direction in genetics research. After years of looking for mutations that cause diseases, investigators are now searching for those that prevent them. By understanding how protective mutations work, they hope to develop drugs that mimic them and protect everyone.

The new approach was turning genetics research on its head, said Dr Eric Schadt, director of the Icahn Institute, a medical research institute at Mount Sinai in New York.

"Instead of trying to fix things that are broken, let's look at people where things are broken but nature finds a way around it," he said.

In recent years, a few astounding protective gene mutations have been discovered, pretty much by accident. One prevents HIV from entering cells and another enormously reduces the amount of LDL cholesterol, the dangerous kind, that people make. Both led to drugs. The AIDS drug is a mainstay of treatment, and the cholesterol drug is in the final stages of testing.

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Scientists hope man with killer mutant gene who refuses to die will provide clues to cure disease

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