Tuesday, November 12, 2019

Genetic mutation prevents Alzheimer’s Disease

Genetic mutation prevents Alzheimer’s Disease
Alzheimer’s Disease is a degenerative disease of the brain associated with the build up of amyloid-beta
protein deposits. Although not genetically inherited, some individuals are predisposed to developing the
disease if they carry the E280A mutation of the Presenilin (PSEN1) gene. In a unique case, an individual
female in her 40s was identified as being a carrier for E280A so her condition was monitored as she aged.
The E280A mutation causes the onset of Alzheimer's Disease and dementia to begin at a younger age.
However, this individual, despite developing signs of dementia in her brain, remained unaffected by the
disease until her 70s. The cause for this was found to be yet another genetic mutation. The individual
carried the mutation, known as “christchurh” in the APOE3 gene, to be even more specific, she carried
two of these mutations, unlike most individuals who carry one (if they carry it at all). More research is
being conducted about the mutation and its possibilities in treating Alzheimer's Disease.
I think it is a very unique case that was meant to be discovered. Alzheimer’s is a fatal and heart
wrenching disease that still requires many more years of research to unwrap its entirety. 
Related article: https://www.alzforum.org/news/research-news/can-apoe-mutation-halt-alzheimers-disease

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