What We Can Learn from Early-onset Alzheimer's that plagues one Colombian family
The world’s eyes are on a small region in Colombia, the state of Antioquia and its center Medellin, where one can see an old woman diapering her middle-age children. Here, the degenerative brain disease “La Bombera” (“the foolishness” in english) takes root at a frighteningly young age. It is Alzheimer's disease, currently afflicting 5,000 members of the Andes region, all of whom are genetically related. Many in this Colombian clan of 5,000 people are “paisas” or “countrymen,” isolated by the Andes mountains and, therefore, likely to inherit the gene guaranteeing Alzheimer's. The family pedigree spans three to five generations and is the largest to experience Alzheimer's: in the early 1700’s, a couple from the Basque region of Spain introduced an altered protein on the chromosome 14 presenilin 1 gene, aptly named the “Paisa mutation".2
The memory of E280A carriers starts to chip away as early as 32 years old, compared to memory loss that those with late-onset Alzheimer's Disease (AD) experience at 65 years old. This cognitive decline follows a buildup of amyloid in the cerebrospinal fluid of the brain between ages 24 and 28. At age 47, those afflicted by the Paisa mutation descend into full-blown Alzheimer's, as their loved ones become caretakers. For the last 10 years of life, carriers experience verbal/memory impairment, behavioral changes, and seizures, a chilling prospect for Natalia Villegas. “How long have I got, till I’m 35?” the 22-year old asks. With the disease present in both parent’s families, she realizes her extraordinary risk. In her town of Yarumal marriage options are often limited; few see intermarriage as a catalyst to the spread of AD. Villegas acquiesces, “There is no way out.”
By: Maya Sitaram
Image from: National Institute on Aging/NIH