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The Catalyst

Alzheimer's grant awarded to study impact in people with Down syndrome

By Mikie Hayes
Public Relations

Ann-Charlotte Granholm-Bentley, DDS, Ph.D., was awarded a $300,000 grant to study the development of Alzheimer’s disease in people with Down syndrome.

One of only three senior investigators whose work in this area is being funded through a joint grants initiative between the Global Down Syndrome Foundation, the Alzheimer’s Association, and the Linda Crnic Institute for Down Syndrome, Granholm-Bentley, professor, department of Neurosciences, and director of the Center on Aging, will be looking for Alzheimer’s biomarkers and identifying neuroprotective therapies.

Granholm-Bentley is delighted that this important subject has finally gained the attention it has so long deserved. “It is exciting that the work I have been doing for 15 years on the connection between Down syndrome and Alzheimer’s disease is finally being recognized and that this form of Alzheimer’s disease is now considered an important field of research by the Alzheimer Association and the NIH. There is much work to be done in this area and through the national focus group that I chair, we can make great strides together, in a short amount of time.”

In the U.S., approximately 6,000 babies are born with Down syndrome each year and it is estimated that 400,000 people are living with the condition. People with this syndrome have 47 chromosomes in their cells, rather than the usual 46 (23 pairs); no one knows what causes this anomaly during cell division.

“In the past, most people with this condition died before they reached their 30th birthday, due to complications from heart defects, seizures, leukemia, and pneumonia,” said Granholm-Bentley. “However, life expectancy has doubled over the last 30 years to
age 60.”

As these patients lived longer, researchers began to notice a link to Alzheimer’s disease and determined that the accumulation of beta amyloid deposits begins much earlier in those with Down syndrome than in the general population. Granholm-Bentley reasons the duplicated chromosome may cause quicker growth of the substance in the brain because it carries the precursor protein for amyloid, and she is working to determine if an overabundance of the microscopic protein fragment is a single cause for the progression of dementia in Down syndrome patients, or if other factors, such as insufficient growth factors in the brain, oxidative stress or inflammation, play a role as well.

Through this grant, Granholm-Bentley will be able to aggressively study the complex genetic mechanisms shared by Down syndrome and Alzheimer’s disease. Research to decipher this connection holds a great deal of promise, as 15 years of studies in mice show that 100 percent of people with Down syndrome will display the brain pathology to develop Alzheimer’s disease, and 75 percent could go on to develop it, she said.

She proposes that because not everyone with Down syndrome develops dementia as they age, even when amyloid accumulates, determining what prevented Alzheimer’s disease in these patients will provide valuable clues that may translate to the general population and answer broader questions about Alzheimer’s disease.

December 1, 2013

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