Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common form of CMT, caused by having an extra copy of the PMP22 gene. This results in PMP22 overexpression, leading to excessive PMP22 protein in Schwann cells, which produce the protective myelin sheath around peripheral nerves. The malfunction of this myelin sheath leads to CMT symptoms and disease progression.
In previous research supported by the Charcot-Marie-Tooth Association (CMTA), a team led by Professor John Svaren, PhD, at the University of Wisconsin-Madison, found that lowering the overexpression of PMP22 in Schwann cells improved symptoms in a CMT1A model. This breakthrough was a significant step forward in CMT research, demonstrating the potential of targeted interventions.
Dr. Svaren and his colleagues discovered that the Sterol Regulatory Element-Binding Protein (SREBP) is crucial in regulating PMP22 levels. By targeting SREBP, they reduced PMP22 levels in peripheral nerves, which led to symptom improvement in their model. Building on these promising results, the team is expanding its research with continued CMTA support.
With CMTA funding support of $74K, Dr. Svaren and his team are administering doses of an FDA-approved drug that targets SREBP in a CMTA-developed model of CMT1A. This research aims to “turn down” PMP22 expression by modulating SREBP activity. The belief is that reducing PMP22 levels in nerve cells will alleviate CMT symptoms and slow disease progression.
This innovative approach to CMT1A treatment involves repurposing an existing FDA-approved drug, which could expedite the availability of a new therapy for CMT1A patients. The current project, scheduled to conclude by the end of this year, represents a critical step in CMT1A research, offering hope for more effective treatments.
This project underscores CMTA’s commitment to supporting cutting-edge research and fostering collaboration between the CMT community, clinicians, and industry experts. CMTA’s Strategy To Accelerate Research (STAR) initiatives continue to be vital in accelerating CMT research. By funding projects like Dr. Svaren’s, CMTA drives the development of new treatments and improves the quality of life for those living with CMT. This project exemplifies how strategic funding and collaboration can significantly advance understanding of and treatments for CMT1A.
As this research progresses, there is renewed hope for CMT1A patients. The findings from this study could pave the way for new, effective treatments that address the root causes of the disease, offering a brighter future for those affected by CMT.
Published: July 31, 2024
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