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Monday, June 13, 2016

 

Researchers studying link between Down syndrome and Alzheimer's















When Ruth Russi was born with Down syndrome in 1959, her parents were told she would die before her fifth birthday. By the time Ruth turned 50, John and June Russi of Costa Mesa, Calif., began to prepare for her outliving them.

But as she aged, Ruth’s behavior changed. She would stare at her crayons, unable to color, or walk out of church still clutching a dollar bill for the offering.

John, 85, and June, 79, were devastated to learn that Alzheimer’s disease, a condition they worried about for themselves, had inhabited their daughter’s brain. Ruth died last fall, a week before her 56th birthday.

“We’d always been able to make her happy one way or another,” John Russi said. “At the end we couldn’t make her happy. That hurt.”

Those with Down syndrome are not only more susceptible to Alzheimer’s, but they experience onset at younger ages. Longer lifespans are creating caregiving burdens for families like the Russis and driving more research into the genetic connection between the developmental disorder and degenerative brain disease.

UC Irvine has received $4.7 million from the National Institute on Aging to launch a five-year study this summer aimed at identifying who with Down syndrome is most at risk for developing dementia.

“I think the urgency in part reflects the urgency of Alzheimer’s research,” said Dr. Ira Lott, a pediatric neurologist and lead researcher. “Alzheimer’s is a tremendous national problem. Many people with Down syndrome live productive and happy lives. To have that cut off prematurely by Alzheimer’s disease is a tragedy that we’re trying to prevent.”

The findings could result in better treatment options and yield discoveries that would also benefit the general population.

“Anytime we can shine a light on any aspect of this disease, that is massively important,” said Jim McAleer, CEO of Alzheimer’s Orange County. “It’s vitally important for those people and their families that we learn how to treat this disease and cure it in that population. Science might learn more about the disease because of the genetic difference in that population. I think it actually can move science forward.”

People with Down syndrome are born with an extra copy of chromosome 21, which causes intellectual disability and a distinct facial appearance. Chromosome 21 also carries a gene that produces a protein that forms the plaques in the brain that increase the risk of Alzheimer’s.

The triplication of the chromosome appears to prime the brain for Alzheimer’s, with autopsies showing that most people with Down syndrome have the neuropathological indicators of the disease by age 40.

Gerard Fobes, 45, of Newport Beach, Calif., plans to volunteer for Lott’s study after losing two childhood friends to Alzheimer’s as well as his maternal grandmother. He doesn’t mind giving blood or remaining still in a confined imaging machine.

“I just like being a part of it,” he said. “I do know my Grandma had dementia. A lot of European elderly have it.”

His mom, Jeanne Fobes, responded, “That’s why you’re doing it, Gerard. You gotta get a cure for us before we get it.”

Fobes, who works every Saturday at Ralphs, starred in Garth Brooks’ 1993 music video “Standing Outside the Fire.” He loves researching academic topics on his computer and volunteering with his dad at a local food bank.

Jeanne Fobes, 84, said she believes her son will be particularly useful to researchers because of his intelligence.

Story Source: The above story is based on materials provided by FREDERICKSBURG
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