Hot Off the Press

by | Oct 29, 2013 | 0 comments

Hot off the press

Research on CMT is global, and covers both laboratory and clinical studies. It is therefore critically important to realize we should be aware of what is happening elsewhere as well as in the USA because it can have implications for what we do and fund.

The mitochondria are the energy source of the cell so any gene mutations that affect their function can have far reaching implications for health and can cause CMT. A study by Chapman et al looked at how one such gene mitofusin 2 (MFN2) affects the phenotype in the zebrafish. While zebrafish with this mutation developed normally they showed progressive motor dysfunction (as they were unable to swim correctly) observed in some CMT type 2A patients. While humans and zebrafish may not look alike their mitofusin 2 proteins are very similar. This therefore represents a useful animal model that can be used to test potential future drugs.

A recent study in Norway by Østern et al looked at diagnostic laboratory testing for CMT and the spectrum of gene defects in that country. 549 patients were studied. Nearly 96% had mutations in just 4 genes (PMP22, MPZ, GJB1 and MFN2) linked to CMT. These genetic findings are in accordance with what has been observed in other countries too. They proposed a 2 tier approach to future testing as also recently suggested in the United Kingdom.

Learn more on this topic

Related Blog Posts

Holiday Cranberry Sauce

Author: A Passionate Plate

Serves: 7 half pint jars


7 – ½ pint canning jars, lids and bands
Canning water bath pot, with rack, filled with 5 inches of water

Pumpkin Marble Cheesecake

Author: A Passionate Plate – from Ray’s Boathouse Seafood Secrets of the Northwest cookbook
Serves: 12

You will need a 9″ springform pan, foil and a large roasting or baking pan for this recipe. The recipe is not hard to make, but cooking time is nearly 2 hours, so be sure allow plenty of time in the kitchen.


Bernadette Released

On Tuesday, September 17th 2013, the world changed for the better – just a little bit. It was the day that Bernadette, the first full-length documentary on Charcot Marie Tooth disease, was released. Not only that, but it kicked of with a very special premiere at the ArcLight Cinemas Theatre in Hollywood.

Caramel Corn Chocolate Chip Cookies

“Sometimes me think ‘what is a friend?’ and then me think… friend is what last chocolate cookie is for.” You know the voice – it’s Cookie Monster, one of my favorite Sesame Street characters. “Me want cookie! Me eat cookie!

Hot off the press

Some recent papers on Charcot-Marie-Tooth (CMT) disease go to show that we are steadily and impressively peeling back the complexity of the biology even though it is a relatively common rare disease with several thousand publications on it.

Join the conversation

Leave a Comment


Submit a Comment

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


Join for notifications on events, campaigns, & news