Genetic and Lifestyle Influences on Dementia in Down Syndrome: New Study Insights

Synopsis
Key Takeaways
- Over 90% lifetime risk of dementia for Down syndrome patients.
- Alzheimer's disease is the leading cause of dementia.
- Extra chromosome 21 influences brain development.
- Case study presents unique insights into cognitive stability.
- Potential genetic and lifestyle factors for cognitive preservation.
New Delhi, March 1 (NationPress) A group of researchers from the United States has unveiled that both genetic and lifestyle elements could explain the prevalence of dementia in certain individuals with Down syndrome.
Research indicates that those with Down syndrome face more than a 90 percent lifetime likelihood of developing dementia associated with Alzheimer's disease as they grow older. Until now, the relationship between these conditions remained unclear. Alzheimer's stands out as the primary cause of dementia.
Individuals diagnosed with Down syndrome possess an additional copy of chromosome 21, which influences the development of their brain and body. Alzheimer's is characterized as a degenerative brain disorder that progressively impairs memory and cognitive abilities.
Investigators from the University of Pittsburgh and the University of California observed an unexpected advancement of Alzheimer's disease in a woman with Down syndrome.
This patient was involved in the research for a decade and generously donated her brain for scientific study following her passing.
"Our goal is to establish a connection between neuroimaging and neuropathology, as we aim to leverage insights from neuropathology datasets to enhance diagnostic and therapeutic approaches for individuals with Down syndrome during their lifetime," explained Jr-Jiun Liou, a postdoctoral researcher in the bioengineering department at the University of Pittsburgh, who utilized a high-resolution MRI scanner to examine her brain.
Despite the woman being cognitively stable at her time of death, MRI scans uncovered signs of neuropathology consistent with Alzheimer's disease in her brain.
"Prior to her passing, all clinical evaluations during our extensive study indicated that she remained cognitively stable, which is what makes this case particularly intriguing," Liou remarked.
"Even though her brain exhibited pathology typical of Alzheimer's, we speculate that her cognitive stability might be linked to her advanced education or certain genetic factors."
The findings from this case study, published in the journal Alzheimer's & Dementia, also provide a unique chance to identify genetic or lifestyle influences that could aid in cognitive preservation.
"Identifying the genetic foundations or lifestyle factors that enabled her brain to function effectively despite the underlying pathology could lead us to strategies that may benefit others," the research team concluded.