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.

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