Chromosome 21: the surprising link between Down’s syndrome and Alzheimer’s
Jan 22, 2025
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In this engaging discussion, Kate Olmstead, a woman with Down syndrome, shares her firsthand experience with the emotional complexities of living with Alzheimer's disease. Joining her is John Hardy, a renowned neuroscientist who sheds light on the amyloid hypothesis and its connection to chromosome 21. They tackle the urgent need for inclusive clinical trials and improved treatment access for individuals with Down syndrome. The conversation explores the intertwined futures of these two conditions and highlights the potential for scientific breakthroughs through better representation in research.
The significant increase in life expectancy for individuals with Down syndrome has brought to light a higher risk of developing Alzheimer's disease, making early diagnosis crucial for effective intervention.
Advocacy for inclusivity in clinical trials is essential, as involving individuals with Down syndrome could lead to better treatments for Alzheimer's and enhance their health outcomes.
Deep dives
Life Expectancy and Independence for Individuals with Down Syndrome
Life expectancy for individuals with Down syndrome has significantly improved, rising from around 30 years in the early 1980s to approximately 60 years today. This change is attributed to advancements in medical care, inclusive education, and social integration, which enable individuals with Down syndrome to lead more fulfilling and independent lives. The personal experience of individuals, like Kate, highlights their desire for autonomy, as evidenced by her initiative to design her own home and create a well-structured daily routine. Such developments underscore not only the medical progress made but also the evolving societal attitudes towards people with Down syndrome.
Challenges of Alzheimer's Disease in the Down Syndrome Community
Individuals with Down syndrome face a heightened risk of developing Alzheimer's disease, with over 70% likely to have it by age 65 compared to less than 10% in the general population. Kate's early diagnosis at just over 40 years old exemplifies the early onset of cognitive decline within this group. The personal struggles of those with Down syndrome, like feelings of frustration and anger stemming from their condition, reveal the emotional complexities tied to Alzheimer's. As the average life expectancy increases, it becomes crucial to address these challenges and the implications for mental health and well-being.
The Need for Inclusion in Alzheimer's Drug Trials
Historically, individuals with Down syndrome have been excluded from clinical trials for Alzheimer's drugs, largely due to misconceptions about their ability to provide informed consent. This exclusion contributes to health disparities and limits treatment access for individuals diagnosed with Alzheimer's. Advocacy from individuals like Kate and her family emphasizes the need for altering clinical trial protocols to ensure inclusivity, thereby allowing participation and representation. Their perspective highlights that including individuals with Down syndrome in research could lead to better medicines and significantly improve outcomes for their community.
Research Potential and Future Directions
The unique genetic profile of individuals with Down syndrome presents significant opportunities for Alzheimer's research, particularly concerning the understanding of amyloid protein's role in disease development. As amyloid plaques are virtually present in all individuals with Down syndrome by age 40, researchers advocate that this population should be prioritized in trials to test new therapies. Current trials, such as those at the University of Southern California, mark a positive shift towards recognizing and including Down syndrome patients in research initiatives. The ongoing dialogue around these trials underscores the potential for breakthroughs that could not only benefit individuals with Down syndrome but also advance knowledge for the broader Alzheimer's community.
Since the 1980s, the average life expectancy of a person with Down’s syndrome has more than doubled, from less than 30 to well into their 60s. Living longer, though, has revealed a tragic twist—the vast majority of people with Down’s will go on to develop Alzheimer’s disease by the age of 65. That’s because people with Down's syndrome, who have an extra copy of chromosome 21, produce increased amounts of beta-amyloid, a protein that is implicated as a possible cause of Alzheimer’s. To make things worse, people with Down’s syndrome often cannot access the dementia drugs that might help them—doctors are reluctant to prescribe them because people with Down’s haven't been allowed to take part in the clinical trials for Alzheimer’s drugs. People with Down’s think that should change. In doing so, could scientists unlock the mystery of Alzheimer’s itself?
Alok Jha, The Economist’s science and technology editor and Emilie Steinmark, our science correspondent, follow the story of Kate Olmstead, who has Down’s syndrome, and her mother, Amy. Emilie also interviews John Hardy, a neuroscientist at University College London who proposed the amyloid hypothesis for Alzheimer’s in the 1990s. Thanks also to Frank Stephens of the Global Down Syndrome Foundation.