LEXINGTON, Ky. - Each year around 5,000 babies are born in the United States with Down syndrome, a genetic disorder that can impair mental abilities and development. As they age, people with this condition are also at higher risk for developing Alzheimer’s disease. As Brenna Angel reports, researchers at the University of Kentucky are examining what the effects of growing older have on Down syndrome.
58-year-old John Cottrell likes to stay busy. He works a couple of days a week at Goodwill store in Lexington, he takes a computer class, and he enjoys bowling and watching UK basketball. He’s also really into country music, especially Glen Campbell.
“And I go up there and sing with a microphone on it. I do karaoke at the house.”
John has Down syndrome, which means he was born with an extra chromosome 21. He understands that he’s different, but it’s not something John likes to talk about.
“John wants to kind of ignore that. He doesn’t want to say that he has a disability,” says John's younger sister Julie Mitchell.
John has lived with Julie for the past 15 years, but Julie admits growing up, it wasn’t always easy.
“A lot of Down’s kids have a problem with anger and John had that. He was a little out of control during his teen years.”
“You mean like getting mad and all that stuff. But I quit doing that,” says John.
Not only is John relatively high-functioning for someone with Down syndrome, his brain is also pretty healthy.
Down syndrome & Alzheimer's Disease
Dr. Frederick Schmitt, a neurology professor at the University of Kentucky, says many people with Down syndrome show signs of dementia and memory loss as they get older.
“People with Down syndrome, because of their added gene at chromosome 21, tend to overproduce a brain protein that is linked to Alzheimer’s disease.”
Scientists know that overproduction of the beta-amyloid protein can start occurring between age 35 and 40 in Down syndrome patients, with dementia setting in about ten years later.
“Mind you, that doesn’t mean everybody gets it. And that’s part of the study,” says Schmitt. “Why do some people get it, why do some not get it?”
Searching For Answers
Schmitt is part of a team of researchers at UK’s Sanders-Brown Center on Aging studying the connection between Down syndrome and Alzheimer’s, and John Cottrell is one of the study participants. He hasn’t shown any signs of dementia, and he gets a full diagnostic workup every 6 months.
“You go through that tunnel; you stay real still and just listen to my music,” John says, referring to his MRI.
The study participants also go through memory and thinking tests and get a full medical exam. Dr. Schmitt says they are always looking for more Down syndrome families to get involved.
“The hope is, in the long run, if we have enough volunteers and we find some interesting differences in the blood proteins or in the brain structure, we’ll be able to develop some treatment approaches.”
The research program has about two more years of funding through the National Institutes of Health, which also sponsored a similar study at the University of California-Irvine.
Julie Mitchell knows her brother is fortunate to be in his late fifties and healthy. John doesn’t have dementia, but he does understand the disease because of his favorite singer. Glen Campbell is battling Alzheimer’s, and John is happy to be a part of anything that could help doctors better understand what happens to the brain as it gets older.
For more information on the Down Syndrome - Aging & Alzheimer's Disease study, contact:
859-257-1412 ext 479