It is a strange “five -light sheep” that intrigues the scientific community. The case of a man, whose family genetic heritage destined him to experience an early appearance of Alzheimer’s disease, which finally won a stay of at least twenty years. An isolated case from the Happy Hall, in contradiction with our current knowledge about this condition. And a possible hope?
This anomaly is the subject of an article provided this Monday, February 10 in the prestigious scientific journal Nature Medicine. American researchers Discover the medical history of a man, to the unknown identity, whose family is systematically affected by the disease hereditary with an early appearance of symptoms, between 48 and 58 years.
The individual in the heart of the study is now 72 years old … and has never suffered specific dementia of this disorder, unlike the rest of his family. However, he is like that they carry a rare genetic mutation, preseniline, responsible for the appearance of this hereditary form of devastating disease that attacks the brain.
“This case challenges us,” said Professor Philippe Amouyel, managing director of the Alzheimer’s Foundation. “Why? Because we say this person, although he had this extremely pathogenic mutation, is protected.”
“She has a resistance to the disease in one way or another,” continues the specialist.
This case is the combination of two phenomena of the order of the improbable. First, being achieved by a hereditary mutation that results in this disease. Then having escaped from dementia for at least twenty years. “We are really in a very unlikely statistical situation,” said Jean-Charles Lambert, Inserm research director, a specialist in Alzheimer’s disease.
“The interesting question is: why?”
The study published in Nature Medicine magazine provides a very useful amount of information about this case. Data collected for ten years: images, analysis, biological monitoring … “An extremely supplied file” according to Professor Philippe Amouyel. In spite of everything that could have been shared in the rest of the scientific community, it feels a great vacuum.
“The interesting question is: why? The article does not answer,” said Inseser.
This study is purely observational. Its objective, put the data collected available to all, to advance in the fastest research, an open science approach, called. If the firm answer is not eliminated, some doors are open. The challenge is to determine whether one or more genetic or environmental factors are responsible for their resistance. And if so, which ones?
Several potential response elements have already been ruled out. This is particularly the case with a mutation observed in 2019 in a previous patient. The only other documented case of a person who also suffers in a hereditary way of Alzheimer’s, even more aggressive, and of which he was also protected.
In this case, the origin of its resistance could be identified. It was protected thanks to the mutation of a protein, “apolipoprotein and”. But the patient whose case has just been made public, seems to benefit from a protection thanks to another still unknown factor.
One of the hypotheses presented by the authors of the study is linked to their work environment. “He is someone who worked in a particular context, with diesel engines … has been exposed for a lot of hair,” Jean-Charles Lambert judges.
Certain specificities have been observed in your body: the largest or lesser presence of certain proteins, in particular those that appear in response to heat. But difficult to draw conclusions, since it is a unique case. It is very possible that these are only specific specificities for the individual without a real relationship with their ability to protect themselves from the disease.
Understand anomaly to better understand the disease and then treat it
It is likely that the case exposed to the scientific community attracts attention. Because I could allow a new therapeutic approach, treatment routes to delay or cure Alzheimer’s. If this new case is particularly interesting, it is because the images of your brain show that the first step in the process of the appearance of the disease has occurred well.
Very approximately, this disorder manifests in two stages. “First there are injuries of a kind of sticky protein (amyloid) that spread in the brain between neurons. The second step, the development of anomalies within neurons, ‘the hyperphosphorylation of the Tau protein, which leads to death of the neurons, “summarizes the general director of the Alzheimer’s foundation.
However, in this man it is well seen in many amyloid deposits, even more than in some symptomatic people of his family. The second step did not manifest.
Finding the cause of this unprecedented resilience could make it possible to find a more general way of treating the second part of the development of the disease and the death of the neurons that results in the ways of dementia that follow. At this point, the 2019 case is already the source of a new therapeutic approach, which should soon be available in Europe. Your interest is reinforced like this.
Despite hope, it is caution for Philippe Amouyel, who asks not to shout the victory too early. However, he is delighted with this news and what could imply in the almost endless fight against Alzheimer’s. “The investigation is progressing, it will never be quick enough, but this type of case is important,” he says. “We discover every day and we have to return people to people through research.”
Source: BFM TV
