Treating CMT2A: MFN1 Gene Enhancement as a Therapeutic Strategy
The research group led by Stefania Corti will study Charcot-Marie-Tooth disease type 2A (CMT2A), a peripheral neuropathy of genetic origin characterized by degeneration of motor and sensory neurons that causes limb weakness, muscle atrophy and altered sensitivity. The condition is caused by mutations in the MFN2 gene, which codes for a mitochondrial protein essential for cellular energy production. A major challenge is the presence of a toxic variant of the MFN2 protein that impairs balance with the MFN1 protein. Studies in mouse models suggest that enhancing MFN1 levels in the nervous system could reduce CMT2A symptoms. An advanced therapeutic protocol based on MFN1 gene delivery could be a step toward effective therapy for CMT2A and other genetic neurological disorders.
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