A genetic discovery full of hope

A deadly pathology and an enigma. In 90 % of cases, it is impossible to clearly determine the origin of Charcot’s disease, which can lead to death in three or five years. For the sick and their loved ones, any progress of research is therefore already a small victory.

A Chinese team of scientists published, in March 2025, a set of results which they consider a solid track to understand the trigger of the disease. And, potentially, pave the way for curative treatment.

The study, published in the prestigious review Nature Neurosciencemade it possible to analyze the tissues of around forty deceased patients. For half of them, it identified an anomaly in the DNA of mitochondria – these small structures constituting the energy power plants of our cells.

According to the team, this genetic modification prevents the electron transport chain from operating. Deprived of energy, motor neurons can no longer perform their function. Now it is these nerve cells that transmit, from the brain to the muscles, the order to set in motion.

To support their hypothesis, the researchers led tests on rats, by introducing this anomaly into their DNA. A series of particularly conclusive experiences, since rats have developed symptoms characteristic of Charcot’s disease.

Promising, the discovery sounds like a hope for the 450,000 people affected worldwide, including 8,000 in France. Charcot’s disease is due to its famous 19th century neurologist, but the medical world commonly designates it as amyotrophic lateral sclerosis (SLA, distinct from multiple sclerosis). A rare pathology that paralyzes the motor muscles, starting with the arms and legs, until blocking respiratory faculties.

This neurodegenerative affection is said to be “sporadic”: it can strike healthy people, overnight, without precise explanation. “It gradually prevents from walking, which obliges the patient to move in a wheelchair,” explains Nathalie Bellisario Maka, member of the Associative Platform for Aid to the Collective Solidarity Charcot. In the following phases of the disease, the person can no longer speak or swallowed and must be powered using a gastric probe. It is also a form of social death, because the patient is deprived of all autonomy. »»

Relaunch research

The Association for Research on SLA in France (Arsla), just like Nathalie Bellisario Maka, remains circumspect in the face of the recent discovery of Chinese scientists.

“The publication of our colleagues is interesting because it points to a gene that could be linked to the most common form of the disease, and whose cause remains unknown, analyzes the Dre Débora Lanznaster, head of research for Arsla. But several studies have already identified around forty other genes that could be linked to this condition. »»

This discovery therefore does not identify the exact cause of Charcot’s disease, points out the specialist. “But such work can revive research dynamics and encourage laboratories to mobilize new funding. »»