Alzheimer mutation

The tangled history of an Alzheimer’s mutation

Researchers unexpectedly discovered a family with a mutation that causes early-onset Alzheimer’s disease in the same region of Colombia as another well-studied extended family with a totally different mutation that causes the same condition. Analysis revealed that one gene variant had its roots in Europe and the other in Africa. The discovery revealed the complex racial history of the area: European colonists and enslaved Africans brought new mutations to the genetically isolated Indigenous population, which was then almost wiped out, causing a genetic bottleneck that allowed rare mutations to become dominant.

Undark | 17 min read
Read more about the first family, subject of a pioneering Alzheimer’s study (from March 2018) Reference: Alzheimer's & Dementia paper