Passing down genes to our offspring is part of the process of having children. We may hope our children will get our spouse's eyes or avoid our family's male-pattern baldness. As a fetus develops, scans and tests can reveal developmental issues, which are often rooted in genes. When our children are born, doctors search for signs of other genetic problems, such as Down syndrome. For most of us, that is where most genetic concerns stop. They are far less likely to develop once we become toddlers. What we have seen by the time we enter kindergarten, with a few exceptions, is likely what we get genetically. For one town in Colombia, however, the biggest genetic threat comes much later in life.
One region of Colombia called Antioquia holds the world's largest concentration of people who carry a genetic mutation that essentially guarantees the development of Alzheimer's disease. This form is not bland. Most of the patients with this gene develop Alzheimer's in their mid-forties and die within a decade. This is an accelerated timeline compared to other cases of Alzheimer's. Because of its accelerated timeline, it is categorized as "early-onset Alzheimer's disease." For a long time, Colombian researchers searched for the reason why these people were dying of the same disease so quickly and in such large numbers compared to the rest of the world. Research uncovered the answer in family histories back to when only priests kept family records. Certain families since at least the 1800s had passed down through generations a "softening of the brain" in the city of Medellin in Antioquia.
Currently, the area of Medellin is the subject of a study through the United States National Institutes of Health. Previous research, published in 1997, had discovered the gene causing the trouble--a mutation on chromosome 14. This allowed researchers to determine who has the genetic mutation that causes this form of Alzheimer's disease. What they cannot yet do is treat the people who have it. For now, since nothing can be done, the researchers are testing people who are members of the families known to pass down the gene. They know who has it and who does not. The families know that they each member has a fifty percent change of having the gene. Any of their children run the risk of also having the gene if their parents have it. It is a terrible kind of lottery and brings understandable anxiety. Even those without the gene are affected, too because it is likely they will be caring for their victimized loved ones.
A recent segment on the CBS show 60 Minutes shone a spotlight on Medellin and the researchers who are grappling with the phenomenon. Since Alzheimer's is expected to affect forty percent of all people in the city, Medellin's inhabitants present important opportunities for research and treatment. (View the 60 Minutes segment at the link below. You will see testimony from the residents and families and hear about the research being conducted. Their battle against Alzheimer's and their loss of loved ones is heartbreaking.)
The Alzheimer's Laboratory
Hope is on the horizon, though. The National Institutes of Health has directed $15 million dollars toward research and finding a treatment for this genetic disease. Researchers are working to discover a way to prevent the genetic mutation in future generations, effectively ending the disease with the current one.
The unique opportunity presented by the people of Antioquia is that many treatments for Alzheimer's disease are thought to be more effective if given before someone develops the disease. They believe that current treatments are simply arriving too late in the process to do any good, resulting in a success rate of only one percent. But how does a scientist find people who will develop Alzheimer's disease before they are diagnosed? In a place where the mutation for the disease is identified--in Antioquia. The promise of this research brought others in --another $15 million dollars in donations and even more funds from a pharmaceutical company. Together, they have begun signing up 300 family members to the study, none of whom have symptoms and some of whom have the mutated gene that will guarantee their development of Alzheimer's disease only if treatment does not work. Antioquia is now the largest Alzheimer's disease research laboratory in the world.
Stahl, Lesley. The Alzheimer's Laboratory. CBS 60 Minutes, November 27, 2016. Available at http://www.cbsnews.com/news/60-minutes-alzheimers-disease-medellin-colombia-lesley-stahl/. Retrieved December 3, 2016.