CATEGORIES: Research

Hot off the press

by | Feb 28, 2014 | 0 comments

It seems like almost weekly there is another new publication on CMT with interesting basic biology. While an earlier “Hot off the press” highlighted the work of Cherry and co-workers at the University of Texas Southwestern Medical Center who showed show that neurons lacking a gene for rab7 result in neuropathy. A new paper suggests “Human Rab7 mutation mimics CMT 2B in the fly”. Janssens and co-workers developed another fly model and showed it demonstrated features of the human disease. This model could be useful for screening compounds as potential therapies and understanding of the mechanism of the disease. Another case of flies being useful of humans.

A second recent study, from the laboratory of Klein and co workers, used 3 mouse models of CMT1X, CMT1B and CMT1A to study Schwann cells and show that they display a heterogeneous pattern of developmentally regulated molecules. These could be useful for diagnostic purposes. They also described an inflammatory reaction as a common disease modulator in the mouse and possibly humans with CMT1.

Again, while flies and Mice are not humans they may lead to useful insights into the underlying biology of CMT. The increasing utilization of different animal models of various CMTs suggests that their role will likely increase in importance. HNF is continually analyzing these developments as part of our TRIAD program.

Learn more on this topic

Related Blog Posts

A New Mouse Model for Charcot-Marie-Tooth (CMT2)

We were recently informed that The Jackson Laboratory (JAX, a nonprofit biomedical research institution headquartered in Bar Harbor, Maine) had taken delivery and will be distributing a newly generated CMT-related mouse model. The new model expresses mutant mitofusin 2, a mitochondrial membrane protein involved in mitochondrial fusion and regulation of vascular smooth muscle cell proliferation.

Hot Off the Press – Potential Treatment for CMT1A

Two recent publications from Pharnext describe a novel synergistic combination of 3 drugs (baclofen, naltrexone and sorbitol) and its effect on CMT1A both in the lab and in a phase II clinical trial. These 3 drugs already approved but for unrelated conditions, are combined at new optimal lower doses and under a new formulation. This novel potential therapeutic is called PXT-3003.

Join the conversation

Leave a Comment

0 Comments

Submit a Comment

Your email address will not be published. Required fields are marked *

Newsletter

Join for notifications on events, campaigns, & news