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Exploring the Link Between Alzheimer’s Disease and Down Syndrome

Writer: Brianna Viets

Editor: Vijaya Varadarajan and Prahalad Srinivasan


Imagine having a conversation with a group of elderly friends who you have known for years. As you start talking about your family, you seem to forget the name of your newly born grandchild. It strikes you as odd that you cannot remember their name, and you begin to wonder: what is happening?


According to the Mayo Clinic, approximately 55% of people around the world suffer from dementia, and about 60% to 70% of this population have Alzheimer’s disease. This brain disorder has been linked to a decline in cognitive functions, social skills, and behavior. Although Alzheimer’s primarily impacts individuals above the age of 65 years old, there are various risk factors that can cause a higher likelihood of developing it—family history, environmental settings, gender, alcohol consumption, and personal lifestyles.


On the flip side, studies have found that Down Syndrome, a genetic disorder where there is an extra copy of chromosome 21, is strongly associated with the development of Alzheimer’s disease. The Centers for Disease Control and Prevention (CDC) explains that chromosome 21 acts as a significant component that links these two disorders together. This gene is involved in the creation of a protein called amyloid, and the build-up of beta-amyloid fragments become plaques in the brain. Other abnormal structures, specifically tau tangles, are known to damage and destroy nerve cells as well. Tau protein typically aids in transporting nutrients and other materials within brain cells, but they may change shape and reorganize into different structures that become neurofibrillary tangles.




Figure 1: Individuals diagnosed with Down Syndrome have an extra copy of chromosome 21.


When either beta-amyloid fragments block spaces between nerve cells or tau tangles negatively affect the internal transport system, cells in the brain are unable to efficiently communicate with each other. As a result, this leads to the disruption in neural signals that are required for a person’s body to properly function. There may be memory loss, disturbed sleep patterns, problems with language, increased confusion, and ongoing delusions or hallucinations due to these complex changes.



Figure 2: Images of amyloid plaques and tau tangles in the brain of those impacted with Alzheimer’s Disease.


As individuals with Down Syndrome advance in age, these Alzheimer’s symptoms become more prevalent. The National Down Syndrome Society has discovered that about 30% of people with trisomy 21 who are in their 40s have Alzheimer’s. Furthermore, around 50% of people with the chromosomal disorder who are in their 60s have Alzheimer’s. By increasing awareness regarding this topic, we can continue to conduct research that will further improve our understanding of the connection between Alzheimer’s disease and Down Syndrome. Be sure to tune into our next write up- which delves deep into the connection between a good night's sleep and cognitive health.



Figure 3, Alzheimer’s Clinical Trials Consortium: Progression of symptoms relating to amyloid plaques and tau tangles in individuals with Down Syndrome.


Citations:

“Alzheimer’s Disease.” Mayo Clinic, Mayo Foundation for Medical Education and Research, 30 Aug. 2023, www.mayoclinic.org/diseases-conditions/alzheimers-disease/symptoms-causes/syc-20350447

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“Down Syndrome and Increased Risk for Alzheimer’s.” Centers for Disease Control and Prevention, Centers for Disease Control and Prevention, 20 Dec. 2022, www.cdc.gov/aging/publications/features/down-syndrome-alzheimers-risk.html.


“10 Early Signs and Symptoms of Alzheimer’s and Dementia.” Alzheimer’s Disease and Dementia, www.alz.org/alzheimers-dementia/10_signs. Accessed 11 Nov. 2023.

“Alzheimer’s in Down Syndrome.” Alzheimer’s Clinical Trials Consortium Down Syndrome, 8 Feb. 2021, www.actc-ds.org/alzheimers-disease-down-syndrome/.

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