Steinert’s disease or type 1 myotonic dystrophy (DM1) mainly affects the muscles, which become weak and have difficulty relaxing after contraction. It also affects other organs (heart, respiratory system, digestive system, endocrine and nervous systems); it is a multisystemic disease. It affects both men and women, and the severity of symptoms is quite variable from one person to the next.
Towards a better comprehension of the mechanisms of the disease
- Reference laboratory: I-Stem
Using human embryonic stem cells (hES) Cecile Martinat’s team is studying the mechanisms of the disease, and in particular those implicated in the myotonic syndrome of the disorder, i.e. the delay in muscle decontraction after stimulation by the motor neuron. This projects consists in reconstruction the neuromuscular axis ex vivo from embryonic stem cells, and then to test therapeutic molecules on these models.
Identifying potential drugs
- Reference Laboratory: I-Stem
By using cells that reproduce the disease, i.e. cells that have the same genetic defect as individuals with DM1, the team is searching for genes that can modify the appearance of myotonic dystrophy. These genes are then studied like so many other potential therapeutic approaches. The high throughput-screening platform installed at I-Stem allows to search amongst a large number of molecules already on the market that can act on these genes.
- Reference laboratory: Institute of Myology
The ongoing French PsyDM1 trial aims at assessing cognitive impairment on 30 children and adolescents affected with the infantile-onset Steinert’s disease. The main goal is to reach a better understanding of disease’s characteristics, in order to submit new recommendations on which an adapted and early care can be based in the long run.