New Delhi, March 1, 2025
A team of US researchers has decoded that genetic and lifestyle factors may determine why some people with Down syndrome suffer dementia.
Studies reveal that people with Down syndrome have over a 90 per cent lifetime risk of developing dementia caused by Alzheimer’s disease as they age. However, the link behind the conditions was not known yet. Alzheimer’s is the most common cause of dementia.
People with Down syndrome are born with an extra copy of chromosome 21, which affect how their brain and body develop. Alzheimer’s is a progressive brain disorder that slowly destroys memory and thinking skills
Research from the universities of Pittsburgh and California found an unexpected Alzheimer’s disease progression in a woman with Down syndrome.
The Down syndrome patient participated in the study for 10 long years, and donated her brain for research after her death.
“We are interested in trying to link neuroimaging with neuropathology, because we want to use information from neuropathology datasets to inform diagnostic and therapeutic criteria for individuals with Down syndrome before they pass away,” said Jr-Jiun Liou, a postdoctoral scholar in the department of bioengineering, University of Pittsburgh, who imaged her brain using a high-resolution MRI scanner.
Although the woman was cognitively stable at the time of death, MRI imaging revealed the presence of neuropathology indicative of Alzheimer’s disease in her brain.
“Before she passed away, all the clinical assessments in our years of studying her indicated that she was cognitively stable, which is why this case is so fascinating,” Liou said.
“Despite her brain’s pathology indicating Alzheimer’s, we think that her cognitive stability could have been attributed to her high education level or underlying genetic factors.”
The data from the case study, published in the journal Alzheimer’s & Dementia, also presents a rare opportunity to uncover genetic or lifestyle factors that may contribute to cognitive preservation.
“If we can identify the genetic underpinnings or lifestyle factors that allowed her brain to function well despite the pathology, we may uncover strategies that could benefit others,” the team said.(Agency)
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