Congratulations to Frédéric Relaix’s BNMS team who made the cover and published an article in Science Translational Medicine!
The RELAIX team at IMRB, which studies the ‘Biology of the neuromuscular system’, published an article in Science Translational Medicine Taglietti et al.,2023 on Wednesday on an innovative therapeutic approach by reactivating endogenous tissue repair in a genetic muscle disease, Duchenne Muscular Dystrophy (DMD).
Within rare diseases, neuromuscular diseases represent about 700 pathologies that are currently untreated and for many of them very disabling or fatal. Analysis of muscle biopsies from DMD patients has shown that muscle stem cell-directed tissue repair is progressively lost during pathological progression.
In order to model the pathology, they developed a preclinical model of the DMD rat, the commonly used mdx mouse, which does not reproduce the damage observed in patients.
They determined that muscle stem cells progressively become senescent in this model and demonstrated that this is also the case in DMD patients.
Next, they compared stem cells from affected muscles (such as the diaphragm or limb muscles) or from muscles spared from the pathology (such as the extra-ocular muscles) using single-cell transcriptomic approaches.
They identified the TSHR signalling pathway as active in stem cells of spared muscles.
Finally, they demonstrated that reactivation of this signalling ex vitro or in vivo using a pharmacological approach in DMD rats protects against senescence and reactivated stem cells and tissue repair, improving muscle strength in DMD animals.
Their work demonstrates that the activation of endogenous repair mechanisms could be a new therapeutic strategy for genetic muscle diseases.
Access to the abstract Sci Transl Med. 2023 Mar;15(685):eadd5275. (Full text via Insermbiblio)