Can this Colombian discovery give the world a cure for Alzheimer's?
This is a woman who reached the age of 70 without developing the disease, even though she is a carrier of the so-called 'paisa mutation', which condemned her to start losing her memory at 44, suffer dementia at 49 and die at 60.
Today, at the age of 76, he has a great scientific discovery in his brain: at the same time, he has the disease and the cure. About six years ago, the woman, whose identity is reserved, began to be studied rigorously, after they realized that she was protected from Alzheimer's for almost 30 years against all odds, explains Dr. Francisco Lopera, coordinator of the Group of Neurosciences of Antioquia (GNA), the Faculty of Medicine of the University of Antioquia, who leads the research in this regard.
Lopera leads a team that has been studying the 'paisa mutation' for at least 35 years, which is present in families in several municipalities of Antioquia, mainly in the north, and is known as the E280A mutation, that is, an inheritance that makes it inevitable to suffer the disease. At this moment, there are identified by the GNA 6,000 heirs of affected families, of which 1,200 are carriers of the disease.
"They have the disease now or they are going to have it for sure in the next few years," says Lopera, who recounts that in 1984, when he was a neurology resident, he treated a 47-year-old patient who had lost his memory. The first question asked was why someone so young had Alzheimer's, but he was also struck by the fact that his father, grandfather, and uncles had had the same thing.
They currently have the disease or are going to have it for sure in the next few years.
Then, they made the genealogy and detected the first family with a hereditary form of Alzheimer's type of dementia. Then they found another similar family in Yarumal and another in Angostura. In 1995, 11 years after the first case, they discovered that it was Alzheimer's and that there was a mutation in the gene, which they called the 'paisa mutation', because it had not been reported in the world. From then on, all the families that were appearing discovered this mutation.
Therefore, finding a patient who only began to develop the disease after the age of 70, despite having the mutation, is an extremely important finding. When Lopera's team made a complete genome for her, she discovered that her brain shared the mutation of the Alzheimer's gene with a mutation in another gene, the one that was protecting her.
"It's a very exceptional condition; that's why we decided to take it to Boston (United States) and the two main tests were done to detect how many wastes were responsible for destroying the brain," describes the doctor. These wastes are amyloid, which is deposited at age 28, and Tau, which is deposited at age 38. Between them, they destroy the brain, but the one that does the most damage is the Tau.
In the patient in question, they found that the brain was plagued with amyloid, much more than in other cases, but had very little Tau. This led them to conclude that the other mutation he had was somehow inhibiting the Tau protein, which is the one that triggers Alzheimer's symptoms. Therefore, this case is extraordinary, because it opens the possibility of avoiding the appearance of these wastes.
The results of this discovery were recently published in the journal Nature Medicine and were received as a great hope in the scientific world.
The study involved experts from the Massachusetts General Hospital (USA), in collaboration with the Schepens Institute for Eye Research (USA) and the University of Antioquia.
"This finding paves the way for possible solutions in a very pessimistic environment because many drugs have failed lately. There are two options: one is a gene therapy, which is like transmitting to another person the same genetic information that protects her, and the other is to imitate with a drug the mechanism that makes the protection in the brain," says Lopera. This can be achieved, in an undetermined time, after several studies and experiments.
At the moment, the patient has "taken out" the main secrets of her body, but follow the evaluations and studies. Currently, she is in the second stage of the disease: mild cognitive impairment, which means that the person has no dementia, but has memory problems, can still work, go outside, does not need caregiver or supervision, lasts for 2 5 years
But soon she will transition to the last phase, which is dementia, when the person has lost his memory, autonomy, independence and all abilities to a degree that requires caregiver and supervision and can last between 10 and 12 years.
Therefore, another of Lopera and her team's concerns is the quality of life for this patient, since she is a person with low economic resources. They are looking for a "godfather" that can afford a geriatric home, where they can spend with dignity and under the care of specialized people.
"She is a person who is providing an impressive amount of knowledge for humanity, he deserves to have a disease with a better quality of life," says the doctor.
It is also likely that the woman's family donates her brain so she can continue to be investigated. This would be part of the Brain Bank that has the GNA, which is composed of 380. This is one way society can contribute to research on these issues. That is why Lopera invites people to donate immediately after death the brain of the Alzheimer's patient to the bank.
She is a person who is providing an impressive amount of knowledge for humanity, he deserves to have disease progress with a better quality of life.
"We can send a tube for a blood sample to be returned, we do the genetic analysis and that is going to be the way to find the population at risk for prevention studies. Colombia has a unique opportunity to give the world a solution for Alzheimer's disease, we all have to mobilize to achieve that goal," says Lopera.
Source: El Tiempo