The 2020 Congress of the Peripheral Nerve Society (PNS), the largest international society of specialists and researchers in the field of diseases of the peripheral nervous system, was held online and in reduced format from 27 to 30/6/2020.
CMTR: A session of the Congress of the Peripheral Nerve Society 2020 dedicated to CMT
The session of the Congress of the Peripheral Nerve Society 2020 dedicated to CMT, saw several researchers. After the welcome of Dr. Shy, Dr. Zuchner presented the current and future approaches to the diagnosis and treatment of CMT.
The evolution of diagnostic techniques (Next-Generation-Sequencing (NGS, new generation sequencing), Whole-Genome-Sequencing (WGS, whole-genome sequencing)), combined with the creation of international networks between researchers has allowed increasing the chances of having a diagnosis significantly.
Furthermore, the progress in genetics and understanding of the mechanisms underlying Charcot-Marie-Tooth lays the foundation for new potential therapies such as:
- siRNA (small interfering RNA), and miRNA (micro RNA), small fragments of genetic code that can regulate protein production. ACMT-Rete also has a study underway concerning miRNAs, in collaboration with the University of Calabria and the “Carlo Besta” Institute;
- gene therapy, a promising field in which many are investing, with a view to personalized medicine.
A model for studying CMT
After Zuchner’s presentation, the session’s moderators introduce the intervention of Prof. Pascale Bomont, who talks about her studies on Neuropathy with giant axons (GAN), a pathology similar to Charcot-Marie-Tooth that can help clarify some mechanisms underlying CMT.
Better understand Mitofusine and axonal damage
Finally, Dr. Robert Baloh presents his research on Mitofusine 1 and 2, involved in axonal degeneration and neuron protection. An alteration of the MNF2 in the CMT2A prevents the mitochondria, the energy plants of our cells, from moving freely along the axon to respond to a stimulus/insult, and this could lead to axonal degeneration.
In their study of an animal model, the authors demonstrate how the clinical situation also improves by restoring Mitofusin 1, which, indirectly, also mitigates the toxicity that altered Mitofusin 2 causes to neurons. Stimulating the production of Mitofusin 1 through gene therapy, or exploiting conformational modulators (peptido-mimetics) that push the altered protein to assume the “natural” disposition of the unmutated protein, represent promising therapeutic prospects for CMT2A.
In general, an increase in the concentration of mitofusins within the neuron would have a neuroprotective effect, counteracting neuronal damage.
We look forward to meeting the researchers at the next PNS Congress!
Many thanks to Filippo Genovese, our Vice-President, and to ACMT-Rete for this report. You can find the Italian version on the ACMT-Rete website: https://bit.ly/3eRaNb8
PS. for those interested, this is the link for the videos of the PNS Congress sessions: https://www.pnsvirtual.com/