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Mosaic Down syndrome and Alzheimer’s Disease
April 3 @ 3:00 pm - 4:00 pm
Down syndrome is associated with Alzheimer’s disease. A subset of individuals with Down syndrome are mosaic, with only some cells having trisomy 21.
Mosaic Down syndrome is a less common form of Down syndrome, where an individual has some cells with the usual pair of chromosome 21, and some cells with an extra chromosome 21 (trisomy 21). This means that not all of their cells carry the genetic material responsible for the characteristics of Down syndrome. The proportion of trisomic cells can vary widely among individuals with mosaic Down syndrome, and this variation can influence the degree of physical and intellectual characteristics associated with Down syndrome.
The relationship between mosaic Down syndrome and Alzheimer’s disease is a subject of ongoing research, and findings suggest that the risk of developing Alzheimer’s disease in individuals with mosaic Down syndrome might be influenced by the proportion of cells with trisomy 21. Since the production of beta-amyloid protein, which is implicated in Alzheimer’s disease, is linked to the extra chromosome 21, individuals with mosaic Down syndrome may have a lower or varied risk of developing Alzheimer’s disease compared to those with trisomy 21 in all their cells. However, the risk is not eliminated entirely.
In this webinar Drs. Laura Xicota Vila and Eric Rubenstein will present research on Alzheimer’s in mosaic Down syndrome.
Moderator: Juan Fortea
Speakers: Eric Rubenstein, Laura Xicota Vila