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Treating myotonic dystrophy as a whole
DM1‑NeuroRevert: understanding and correcting brain involvement in myotonic dystrophy
The NeuroRevert project seeks to understand and correct the brain involvement caused by Steinert disease, in order to enable comprehensive care of the disease.
Scientific challenge
Myotonic dystrophy type 1 (DM1, also known as Steinert disease) is often presented as a muscle disease. It is in fact a multisystem disease, and its brain involvement (attention disorders, fatigue, learning difficulties, behavioural problems) lies at the heart of the disability patients experience. Yet no current treatment targets the brain, and research has long focused on muscle.
Understanding and correcting central nervous system dysfunction is therefore a major public health issue, and is essential to improving independence, schooling, working life and quality of life for families.
Key questions to unravel
The DM1‑NeuroRevert project is built around three key questions:
- Which brain cells are involved?
Neurons are probably not the only players. Recent work suggests that other cell types contribute to cognitive and behavioural symptoms. - How does the genetic mutationModification soudaine et transmissible du matériel génétique. Elle peut être spontanée ou induite par des agents dits » mutagènes » (radiations, produits toxiques,…). disrupt the way they work?
The team is analysing cellular and molecular mechanisms, changes in gene activity, protein abnormalities and alterations visible on imaging. - To what extent are these alterations reversible?
The project aims to determine whether some symptoms can be corrected, and which therapeutic targets are the most relevant.
Scientific and methodological approach
The project is based on unique experimental models, developed in the laboratory, that reproduce the brain involvement seen in DM1. These models make it possible to study the disease cell by cell, at a resolution that cannot be achieved in clinical practice.
The researchers will combine:
- Functional analyses of cells (RNAmacromolécule constituée d’une seule chaîne de nucléotides (simple brin) résultant de la transcription (copie) de l’ADN. sequencing, proteomics, imaging).
- Mechanistic studies to link the biological abnormalities to the symptoms observed in patients.
- Development of biomarkers able to objectively measure the effect of future treatments.
- Evaluation of innovative therapeutic strategies, in particular gene therapy approaches targeting the brain cells involved.
The aim is to move from understanding the mechanisms to demonstrating that some symptoms are reversible in preclinical models.
Behind every scientific result, there is a family waiting. This project is not only about understanding the disease better. It aims to pave the way for treatments that address all of its manifestations, and so bring lasting change to patients’ lives.
Mario Gomes-Pereira, researcher at the Institute’s Center of Research in Myology
Expected impact on research and clinical practice
DM1‑NeuroRevert could transform the care of myotonic dystrophy by paving the way for treatments that finally target the brain, alongside muscle.
In the medium term, the project could:
- identify the key cells to be treated as a priority;
- define the optimal time to intervene;
- provide robust biomarkers to evaluate therapies.
In the long term, it could:
- enable the development of combined muscle and brain therapies;
- support the emergence of clinical trials focused on improving brain function;
- offer truly comprehensive care, aligned with patients’ needs and the vision of the future Foundation of Myology.