“I would like to know if I will have it to plan my life.”

The latest research that gives scientists ammunition to advance and defeat the disease is a study Sant Pau Hospital from Barcelona, ​​published this week in the journal Nature Medicine, which shows for the first time that people having two copies of the same variant of the APOE4 gene have been associated with the development of pathology for more than 30 years – in a high percentage of cases (more than 90%) in They develop dementia at 60 or 65 years of age. The new genotype causing the disease is characteristic of people affected at a younger age.

“What we have discovered is a new genetic variant of the disease. Until now, this gene has been a risk factor, not a genotype, that causes Alzheimer’s disease,” he says in a statement to ABC. Joan Fortea, director of the memory department of the neurological service of the Sant Pau Hospital, who argues that this discovery opens the door to population-based surveys and treatments tailored to each patient profile in the future. “Through research, we know that virtually everyone who has this duplicated gene develops Biology of Alzheimer’s disease. We can say that he has a disease; It’s another matter when symptoms begin to appear,” explains the specialist from Sant Pau.

Relatives of victims of this disease celebrate the new contribution of science to the fight against it. As for whether they would like to know whether they are genetically predisposed to suffer from it, they agree in their answers: “Yes, to be able to plan their lives and make decisions.”

Juan Carlos Manzanero71 years old, lost his mother Merce Iglesias in 2001. He had been ill for eight years and was already 80 years old. He was with her until the last moment, accompanying her to the residence where she was placed when the extent of her addiction increased. Juan Carlos came punctually every day to feed her dinner and tried to keep her in shape (as much as possible) by playing dominoes with her. He did this almost until the last day. “Watch the disease progress until it reaches complete cognitive impairment it’s horrible. In advanced stages, victims not only lose memory, but their brains also stop giving orders to digest food and perform basic vital functions, resulting in death,” explains Manzanero.

“You make sure they don’t suffer.”

He admits that, given the severity of the situation, family members tend to look for the “least negative part.” “It’s hard to imagine how the person you love turns out to be an inanimate object, without expression, without memory. See how he looks at the TV as if it were a painting, but you cling to the idea that he is not suffering. To see it limited to a physical space in the world is very sad and very difficult to accept,” he says. Juan Carlos.

The loss of his mother and a desire to do his part in the fight against Alzheimer’s disease prompted him to take part in the Alpha Study, he told ABC. Pascual Maragall Foundation (FPM), aimed at obtaining information about the early signs of the disease in healthy people. Participants must be between 45 and 74 years of age and have a direct family member who suffers or has suffered from the condition. His professional profile – he is a doctor of biochemistry, specializing in immunology – was a good reason for taking this step and becoming a volunteer.

“My mother was convicted. He was diagnosed with the disease in 1993, a year after the Olympic Games. I was with her until the last moment and it was difficult to see how little by little this devastating illness cut her off from life, although I think that until the last moment she recognized me. At least that’s what I want to think about. His loss was the impetus for me to participate in the study,” says Manzanero. A televised address by the then director of the Foundation, Dr. Jordi Camiparticipating in the study also helped, he admits.

Alpha study

In 2012, Manzanero knocked on the door of the Pascual Maragall Foundation and its research center BarcelonaBeta Brain Research Center (BBRC), where Alpha study, which involves 3,000 people without cognitive changes. Volunteers, including Juan Carlos, undergo various tests aimed at assessing cognitive levels, as well as other more clinical tests such as MRIs, blood tests or lumbar punctures to check if there are signs of disease in the brain. Part of the cohort from this study was donated by the Foundation to cutting-edge research on the APOE4 gene at the Sant Pau Hospital. Whether Juan Carlos is part of this process, neither of the two centers was willing to confirm. “The personal information of participants in both studies is confidential,” the newspaper was told by Pascual Maragall Foundation.

Juan Carlos knows that the genetic burden of the disease is small – less than one percent of cases – but he does not rule out the presence of a marking. He acknowledges that the recent Sant Pau study expands the scope of the disease. “Of the people who have this duplicated gene, most will have this disease; Clear. And it is known that in relation to all victims they represent about 20 percent of victims“A volunteer remembers. When asked if he would like to know if he is genetically predisposed to suffer from it, he answers without hesitation with a resounding “yes.” “Yes, I would like to know if I will suffer from it, although there is no cure today, because it would help me plan what is left of my life and make certain decisions,” he notes.

“I participate with my daughters and granddaughters in mind.”

Clarifies that age is important when deciding whether you want to receive this information. “We know that from the moment the disease is identified until the first symptoms appear, it can take up to 15 years. Therefore, saying that you will suffer from Alzheimer’s disease at age 70 is not the same as saying that you will suffer from Alzheimer’s disease at age 40, when you still have a lot of time to worry and think; This is completely different,” he notes.

Juan Carlos hopes that in the near future science will find the key to turning the disease into a chronic form, but he knows that it will be difficult for his generation to benefit from the “final solution.” “I don’t go into the study thinking I can benefit from the advances, I know it’s difficult because of my age. I do this for my daughters and granddaughtersIn short, so that future generations can benefit from what has been achieved thanks to my small contribution to research,” explains the volunteer.

Ines Fernandez, whose husband Ildefonso has suffered from Alzheimer’s disease since he was 57 (he will be 65), thinks the same. “I’m all about knowing if I’m susceptible to this condition because if it’s diagnosed early there’s a better chance of treatment, although even the thought of it scares me,” she told the ABC. His mother has suffered from dementia (she doesn’t know if it’s Alzheimer’s) for seven years and has been with her husband every day since the diagnosis shocked him. “At the moment he is completely autonomous, but I’m scared to think about tomorrow,” says Ines. Think about your husband Ildefonso Fernandez, with whom he lives in Logrono, but above all with his two children, 32 and 27 years old. “Scientific advances regarding this disease will not benefit us, but will benefit our children’s generation,” explains Ines. Her husband is part Alzheimer’s Expert Panel (PEPA), which cooperates with Spanish Confederation of Alzheimer’s and other dementias (Cheafa). Today, Ildefonso remains asymptomatic, although his brain is affected by the disease. Ines hopes that science will strengthen the already open door to taming the disease.

Arkady Navarro, director of the Pascual Maragalla Foundation and the BBRC, knows from his extensive experience that great advances in the fight against disease are achieved through small contributions, such as those of Juan Carlos. “The contributions of study participants allow researchers to collect useful data to advance the preclinical stage of Alzheimer’s disease, which can begin up to 20 years before the onset of clinical symptoms,” the study’s president told ABC. BBRC.

In his opinion, the Sant Pau study is important because it “allows the international community to speculate whether this is a specific form of the disease.” “Research tells us that people who have two copies same APOE4 gene variant They have amyloid protein accumulated in the brain. This does not mean they have cognitive problems or symptoms of the disease. There are brains of deceased people with a large accumulation of this protein and who did not have any cognitive impairment,” he clarifies. Navarrese.

As for whether you want to know whether your genes are destined to suffer from this disease, your answer is yes. “I would like to know, even if there is no cure, because it can make vital decisionsfulfill my obligations towards my family,” he concludes.