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Down Syndrome’s Link To Alzheimer’s Gets Closer Look At CU Hospital

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Gretchen Josephson with her sister Karen (credit: CBS)

Gretchen Josephson with her sister Karen (credit: CBS)

AURORA, Colo. (CBS4) – Could studying Down syndrome help unlock the mystery of Alzheimer’s disease? Researchers are now investigating why people with Down syndrome are at a high risk for Alzheimer’s.

There is a lot of excitement about unraveling Alzheimer’s disease by studying Down syndrome. CBS4 Health Specialist Kathy Walsh learned about work being done at the University of Colorado Anschutz Medical Campus.

Researchers say if we all live to be 85, half of us will have dementia or Alzheimer’s disease, and the other half will be caregivers.

Gretchen Josephson authored a book of poetry and her Down syndrome didn’t stop her. She played sports, traveled and lived on her own. She’s worked at the Denver Foley’s and Macy’s in total for 37 years.

“She was really a self-starter,” Gretchen’s sister Karen said.

But at 59, Gretchen lives in an assisted care home. Karen says she needs supervision.

“With dressing, with eating, with hygiene; she needs lots of help,” Karen said.

That’s because Gretchen has Alzheimer’s disease. It’s no surprise to Dr. Huntington Potter.

“Everyone with Down syndrome is at great risk of developing Alzheimer’s disease and we can see it in their brain by the time they’re 30,” Potter said.

That’s because instead of two, they have three copies of Chromosome 21. That means three copies of the amyloid gene that causes Alzheimer’s. And studies have found that people with age-related Alzheimer’s have a connection to Down syndrome.

“They make too much amyloid. Furthermore, they sometimes have three copies of Chromosome 21 in the cells of their brain and the rest of their body, so they’re like people with Down syndrome,” Potter said.

Potter is the director of the Alzheimer’s disease research program at the CU School of Medicine. They are studying the link with Down syndrome in hopes of finding treatments for Alzheimer’s. It may not help Gretchen, but generations to come.

Colorado is home to the Global Down Syndrome Foundation. The Linda Crnic Institute for Down Syndrome is also on the Anschutz campus, so it’s the perfect place to study the connection.

LINK: Global Down Syndrome Foundation

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