Treating CMT2A: MFN1 Gene Enhancement as a Therapeutic Strategy

CMT2A is a prevalent genetic peripheral neuropathy that leads to the degeneration of motor and sensory neurons, manifesting as limb weakness, muscle wasting, and sensory impairments. This condition is caused by mutations in the MFN2 gene, encoding a crucial mitochondrial protein indispensable for cellular energy metabolism. Currently, no cure exists for CMT2A. Gene Enhancement Therapy (GET) presents a hopeful means to rectify the genetic defects underlying the disease. The challenge in CMT2A isn't merely the absence of functional MFN2 but also the presence of a detrimental MFN2 variant that offsets the balance with healthy MFN1-2. Recent findings from transgenic mouse models, supported by our initial gene therapy studies, indicate that augmenting MFN1 levels in the nervous system might notably alleviate CMT2A symptoms. Our research is centered on pioneering a therapy that delivers the MFN1 gene to compensate for mutant MFN2  in CMT2A animal models. We are committed to rigorously evaluating improvements in phenotypic markers in both in vitro and in vivo setups. In essence, our groundbreaking approach might lay the groundwork for the first effective CMT2A treatment and furnish a model for tackling other genetic neurological conditions.