Within a 100-mile radius in Antioquia, Colombia, one family with a rare genetic mutation dating back to the early 1900s could shed some light on the decades-long research surrounding the neurodegenerative condition Alzheimer’s disease. A possible breakthrough in research or treatment options could be a game-changer for older adults who wish to age in place.
The Marquez family has the largest concentration in the world of extended family members who carry a rare genetic mutation that with 100% certainty will develop Alzheimer’s disease, according to a segment Sunday night on CBS News’ 60 Minutes.
Alzheimer’s disease is the sixth leading cause of death in America. At this point the cause of the disease has centered around two gene mutations: risk genes and deterministic genes, according to the Alzheimer’s Association.
Risk genes increase the likelihood of someone developing the disease, but do not guarantee it will happen. Deterministic genes directly cause the disease and would guarantee that anyone who inherits one will develop the disorder, but these types of genes account for less than 5% of Alzheimer’s cases. The deterministic genes are typically linked to early-onset Alzheimer’s.
Alzheimer’s disease is heartbreaking at any stage, but early-onset Alzheimer’s can be especially difficult for families, as it strikes younger people, generally when they are in their mid-40s, and progresses extremely fast. This is the particular type of the disease, and the deterministic gene, being passed down from generation to generation in the Marquez family.
Each person in the family has a 50% chance of having the one gene mutation that will guarantee early-onset Alzheimer’s, according to the 60 Minutes report.
There are currently two types of drugs approved by the U.S. Food and Drug Administration (FDA) that can lessen the side effects and slow the progression of the early stages of Alzheimer’s, but there is no cure yet.
The silver lining
The somewhat positive side of this devastating situation, however, is that the Marquez family drew attention from across the world and is now part of a multimillion dollar National Institute of Health (NIH)-backed study that is looking for the cause and potential treatment for this particular type of early-onset Alzheimer’s.
With the help of Dr. Francisco Lopera, a neurologist at the University of Antioquia who pinpointed the disease, when the Marquezes did not know what Alzheimer’s was, and Dr. Pierre Tariot, director of the Memory Disorders Center at the Banner Alzheimer’s Institute in Phoenix, the study began.
“There’s nothing else like it,” Tariot said during the segment. “The idea that there’s this concentration [of the disease] within roughly 100 miles of each other is—just an extraordinary phenomenon.”
To get ready for a large clinical trial, the Banner Alzheimer’s Institute in Phoenix flew a group of extended family members from the Marquez family to perform PET scans. The purpose of the scans was to compare the brains of the family members with and without the gene mutation, all of whom did not have any signs of memory loss yet.
In the family members with the mutation, the scan showed large amounts of amyloid plaque in the brain, which meant if scientists could find the a drug to remove the plaque, the disease itself could be prevented.
To create a drug and perform a trial, NIH donated $15 million, along with $15 million from philanthropists and the rest of the funds from drug company Genentech.
The first patient for the trial enrolled three years ago. Now, the plan is to enroll a total of 300 members of the extended Marquez family who don’t have memory loss yet, but 200 of those selected will have the mutation and 100 will not.
Half of the injections during the trial will be an immunotherapy drug to remove amyloid plaque and the other half of the injections given will be a placebo. The study is double-blind, which means neither the patients nor anyone involved in the study will know who’s getting which injection, according to 60 Minutes.
The group comes in for injections every two weeks and will continue to do so for at least five years. The results are expected in 2021.
“If it [the amyloid drug] makes a difference for them, I think there’s a reasonable chance it could make a difference for all the rest of the people who get Alzheimer’s disease,” Dr. Claudia Kawas, a leading Alzheimer’s researcher and clinician at the University of California Irvine, said in the segment. “It might be the case that just like when you go to your doctor to get your cholesterol checked in your blood, you would go and get an amyloid PET scan, and it would be part of routine prevention.”
Watch the full segment on 60 Minutes.
Written by Alana Stramowski