One Fellowship available to develop this project : contact Florence Rage florence.rage@igmm.cnrs.fr
Spinal Muscular Atrophy (SMA), is a severe motor neuron disease that affects neuromuscular junction (NMJ) function. SMA is primarily caused by mutations in the SMN1 gene, leading to reduced levels of SMN protein, which impacts motor neurons. The project aims to explore the hypothesis that disrupted RNA localization, specifically of the Anxa2 mRNA, plays a role in the disease. It suggests that inappropriate axonal transport of mRNA may be linked to SMA symptoms, including NMJ dysfunction and motor neuron degeneration.
The project will involve :
Differentiating iPSC cells (mutated and control) into motor neurons.
Investigating axonal mRNA localization using smFISH techniques.
Studying local translation of Anxa2 mRNA and its interaction with SMN.
Analyzing actin dynamics and its role in SMA pathology.
The ultimate goal is to provide evidence connecting RNA mis-localization with SMA defects.
