Boosting MFN2 levels in neurons using adeno-associated virus (AAV) vectors as a therapy for Charcot-Marie-Tooth disease type 2A
Marine Tessier, Nathalie Bonello, Nathalie Roeckel-Trévisiol, Karine Bertaux, Marc Bartoli, Valérie Delague*, Bernard Schneider*, Nathalie Bernard-Marissal · FENS Forum 2024
Charcot Marie Tooth (CMT) disease is a rare and incurable genetic disease of the Peripheral Nervous System resulting from defects in Schwann cells (demyelinating CMT) or in motor/sensory neurons (axonal CMT). More than 120 causative CMT-related genes have been identified so far. Among them, CMT type 2A is the most common axonal form and is linked to mutations in the MFN2 gene encoding Mitofusin-2 (MFN2). MFN2 is an important regulator of mitochondrial fusion. Around a hundred mutations have been described and are distributed throughout all the protein's domains. Consequently, gene therapy stra
ePoster · Neuroscience