Jang, Sung-Wook (NCATS)
Svaren, John (Charcot-Marie-Tooth Association)
This technology includes the use of proteasome inhibitors, such as Bortezomib, for the treatment of the most prevalent form of Charcot-Marie-Tooth disease type 1A (CMT1A). Duplication of the peripheral myelin protein 22 (PMP22) gene, normally involved in myelination of the peripheral nervous system, is the causative agent in most forms of CMT1A. A drug discovery program was initiated and found that proteasome inhibitors can be used to target PMP22.
This discovery can be used to treat CMT1A with existing products such as proteasome inhibitors, including Bortezomib.
This discovery identified a biological pathway for which drugs have already been developed. The current drugs that target the proteasome are highly toxic and used as anticancer agents.