Alzheimer's Disease and the Early-Onset Colombian Connection

By

I’m a huge fan of the CBS news show Sunday Morning.  It’s 90 minutes of quality programming that I look forward to every week.

A recent Sunday Morning cover story was about Alzheimer’s disease.  Titled How One Family May Raise Hope for Alzheimer’s Patients, it was reported by Mo Rocca, one of my favorite reporters.  The nine-minute segment focused on the inherited early-onset Alzheimer’s that has been identified in a large, extended family in Colombia, near or around the city of Medellin.

There are approximately 5,000 family members and all are descended from one Basque couple who settled in Colombia in the 1700s.  Genetic testing show an astounding one-third of the family carry a mutated gene that has been identified as the culprit in passing along the early-onset Alzheimer’s.  Those who get the disease often begin showing symptoms in their 40s.

Scientists, most notably from the Banner Alzheimer’s Institute in Phoenix, Arizona, have been studying these familial links for many years.

Researchers first created an extensive family tree, a huge undertaking.  Then, the gene had to be identified, a process that took a decade.  Next, they analyzed the DNA of 3,300 family members.

While all this was happening, the team of scientists were searching for a drug company to participate and pony up for some huge drug trial costs.  Genentech finally signed on and their drug, Crenezumab was selected for the trial.  One of the study leaders is Dr. Francisco Lopera, a Colombian neurologist.

Studying this Colombian family allows researchers to work with those who have the mutated gene for early-onset Alzheimer’s, but before these individuals develop any signs of dementia.

Since this Colombian family was first identified, researchers have learned a great deal about the brain and about Alzheimer’s disease.

For example, it is now understood the disease can take many years to manifest.  An individual may have the beginnings of Alzheimer’s but show no outward signs or symptoms for a decade or even two or three.

Additionally, scientists were once convinced the disease was caused by a massive build-up of Beta-amyloid plaques and tau proteins, often referred to as the hallmark traits when a diseased brain is autopsied.  Some researchers now believe that while plaque and protein destroy brain cells, they are a by-product and not the root cause of the disease.

In Colombia, researchers are testing new, experimental plaque-reducing medications on 300 healthy adult family members.  A smaller study, using the same criteria, is simultaneously being conducted in the U.S.  You may learn more by visiting the Universidad de Antioquia website.

If these drugs are successful, this double-blind, five-year study will control the plaque build-up and (hopefully) stave off Alzheimer’s for participants.

However, another, and very unwanted, result could be this: The drugs are successful at eradicating plaque deposits and stopping any new build-up, however the individual still develops Alzheimer’s disease.  This outcome would no doubt send researchers back to the drawing board.

Nancy Wurtzel is a public relations professional and creative writer.  She pens Dating Dementia (www.datingdementia.com), a mostly humorous and sometimes twisted blog about making big changes at midlife.  Read about Nancy's journey through divorce, moving across country, empty nest issues, baby boomer challenges, dating and caring for an aging parent with Alzheimer's disease.