A Genetic Hotspot for early-Onset Alzheimer’s

In the highlands of Jalisco, Mexico, a cluster of early-onset Alzheimer’s disease cases has baffled researchers for decades. this region, comprised of twenty municipalities, presents a unique challenge and opportunity to understand the genetic underpinnings of this devastating condition. The story began in 1999 when a woman from the Jalisco’s Altos Region sought help from neurologist John Ringman at the University of California, Los Angeles, exhibiting memory loss at a relatively young age. What made her case particularly striking was the fact that her mother had experienced similar symptoms.

Subsequent investigations revealed a shared genetic mutation, A431E in the Presenilin 1 (PSEN1) gene, among seemingly unrelated families in the region. this mutation is known to contribute to the growth of Alzheimer’s disease. The discovery highlighted the urgent need for further research into the prevalence and origins of this genetic anomaly.

“It could not be coincidence,” says neurologist john Ringman, reflecting on the initial discovery of the shared mutation. “Even though the two families were from different surnames, they came from Jalisco and had the same A431E mutation in the Preseniline 1 (PSEN1) gene that contributes to Alzheimer’s.”

The Curse of Consanguinity: Unraveling Myths and Realities

For generations, the inhabitants of Jalisco’s Altos region have whispered about a curse linked to marriages between relatives.This belief, fueled by the isolation of the communities and their deeply ingrained customs, attributed the early-onset Alzheimer’s to divine retribution.