Khaberni - In a scientific breakthrough that may be a turning point in understanding degenerative neurological diseases, researchers have identified the mechanism behind one of the most common genetic forms of Charcot disease.
For the first time, researchers succeeded in stopping the neurodegenerative process in various experimental models, according to the French newspaper "Le Figaro".
Charcot disease is a serious, incurable degenerative neurological disease affecting about 6,000 people in France, with approximately 2,000 new cases recorded annually; the disease causes a progressive paralysis of the muscles, often leading to death within a few years.
A mutation in the gene "C9 ORF 72" plays a key role in the appearance of the most common genetic forms of Charcot disease.
This gene is also believed to be largely responsible for the development of frontotemporal dementia, a serious neurological disorder affecting behavior, language, and personality.
This disease has recently received wide media coverage following the announcement that American actor Bruce Willis has been diagnosed with it.
Until today, there are no effective treatments for either Charcot disease or frontotemporal dementia, and scientific research has been moving forward with great difficulty.
A study spanning more than ten years
According to the French newspaper, the study, published in the journal "Science", is the result of over ten years of joint work between researchers from the French National Centre for Scientific Research and Harvard University.
The researchers explain that they have managed to identify the precise mechanism by which the gene "C9 ORF 72" causes neurological damage, which has allowed them to develop experimental interventions that succeeded in stopping the neurodegenerative process in animal and cellular models—a unprecedented achievement in this field.
Real hope for developing targeted treatments
Previously, several clinical trials targeting the "C9 ORF 72" gene failed. Dr. Pradat, a specialist in this field, explains: "Until now, gene therapy research on this gene has not been convincing because we did not know exactly where to intervene. With this study, we have a clear and specific target.. Now we can work more accurately, and this represents real progress and excellent news, as it significantly increases the chances of developing effective treatments."
The importance of this discovery is heightened by the significant genetic advancements in Charcot disease in recent years, as it is known that five main genes alone explain about 70% of familial cases, alongside about fifty other rare genes that may play a role in the disease.
Encouraging precedents in gene therapy
The idea of targeting the genetic roots of the disease is not entirely new. In 2022, a therapeutic approach targeting the gene "SOD1" raised significant hopes among patients suffering from a rare form of Charcot disease associated with this gene.
Researcher Frank Martin recalls: "Doctors saw patients being able to rise from their hospital beds," referring to unexpected improvements in cases previously considered hopeless.
This past success boosts hopes for today in applying a similar strategy to the mutation "C9 ORF 72", which is much more common in the genetic forms of Charcot disease and frontotemporal dementia.
This scientific discovery represents a crucial step toward a deeper understanding of the mechanisms of neurodegeneration and may open the door to targeted gene therapies capable of slowing or even stopping the disease.
While the road to clinical treatment is still long, this progress renews hope for patients and their families, affirming that scientific research may finally be on the verge of changing the rules of the game.
