Jordi Pérez-Tur

A family of more than 1,000 members with origins in Colombia has a mutation called "paisa" that leads to the development of Alzheimer's disease. In 2019, an added mutation in the apoE gene called "Christchurch" was described as conferring strong protection to an individual carrying two copies of it. Now, a study has found that 27 family members carry a single copy and that it is also associated with some degree of protection. According to the authors, who publish their findings in the journal NEJM, the discovery could be used to develop new treatments for the disease. 

Genetic forms of Alzheimer's are considered to be those in which certain variants of a gene inevitably lead to the disease over time. Until now, only rare alterations in three genes were considered as such. A group of researchers led by the Hospital de Sant Pau in Barcelona has proposed a new, much more frequent form. After analysing data from more than three thousand donated brains and clinical data from more than ten thousand patients, they found that almost all people who carry two copies of the ApoE4 variant in the ApoE gene, which was previously only considered a risk factor, also end up developing the disease.They publish the results in the journal Nature Medicine.