Motoneuron diseases
Team :
Cécile Martinat : Research Associate CR1 (INSERM)
Camille Lecuyer : Qualified research technician (CECS)
Morgane Gauthier : PhD Student
Yves Maury : Associate engineer (CECS)
By using mutated human pluripotent stem cells lines for diseases affecting motoneurons, our goal is to improve the knowledge of the molecular and cellular mechanisms implicated in the development of pathologies.
First, our project focuses on Myotonic dystrophy type , also called steinert disease, by using an pre-implantation diagnostic -derived hES cells line carrying the causal mutation of this disease, an abnormal CTG repeats located in the 3’ UTR of the DMPK gene.
First, our project focuses on Myotonic dystrophy type , also called steinert disease, by using an pre-implantation diagnostic -derived hES cells line carrying the causal mutation of this disease, an abnormal CTG repeats located in the 3’ UTR of the DMPK gene.
In order to better understand the mechanisms of this disease, we are interested to study the mechanisms implicated in the myotonic affection, such as the delay in the muscular decontraction after stimulation by the motoneuron. Thus, our project consists to reconstitute the neuro-muscular axis in vitro by using the mutated hES cells line. To a longer extend, the development of this in vitro model should allow the identification of potentially therapeutical compounds.
The first part of the project consisted in the development of protocols allowing the obtention of hES-derived motoneurons.
In order to check the ability of this population of hES-derived motoneurons to connect to muscular fibers, we actually develop co- cultures using primary human myotubes.
