MFN2 Confirmed as a Major Cause of CMT2 (Repost info) Quest Article

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QUEST Volume 12, Number 6, NOVEMBER/DECEMBER 2005

(Note: this is from MDA's Quest Magazine and most likely will be a

repost for most of us who were around starting last year. ~ G)

MFN2 Confirmed as a Major Cause of CMT2

Flaws (mutations) in a chromosome 1 gene that instructs for the

mitofusin 2 protein account for approximately 20 percent of type 2

Charcot-Marie-Tooth disease (CMT) cases, says a study in the July 26

issue of Neurology.

The mitofusin 2, or MFN2, gene was first linked to CMT2 last year

(see " Research Updates, " July-August 2004). It affects the behavior

of mitochondria, the energy-producing units in cells.

Now, researchers in the laboratory of Flanigan at the

University of Utah School of Medicine in Salt Lake City have

identified mutations in the MFN2 gene in three large families with

CMT2.

Type 2 CMT results from abnormalities in the nerve fibers (axons),

while type 1 results from defects in the insulating sheath

surrounding the axon and containing proteins and carbohydrates

(myelin sheath). These are distinguished by nerve conduction testing.

The investigators suggest that genetic testing of CMT2 patients begin

with a screen of the MFN2 gene. (Such screening is commercially

available.)