Punnett's Square: 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.

Punnett's Square