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New genetically engineered mice aid understanding of incurable neuromuscular disease
Date:4/17/2012

COLUMBIA, Mo. -- A team of scientists from the University of Missouri created a genetically modified mouse that mimics key features of Charcot-Marie-Tooth disease, an inherited neuromuscular disease affecting approximately 150,000 people in the United States.

Charcot-Marie-Tooth, or CMT, is a group of progressive disorders that affects the peripheral nervous system, the part of the nervous system that connects the brain and spinal cord to targets such as muscles. The disease largely affects the distal nerves, those running to the feet and hands, and can progress to include the legs and arms.

"Wasting and weakening of the muscles occurs because the distal nerves are either dying or not functioning properly," said Michael Garcia, study leader and associate professor of biological sciences. "The condition can be very debilitating depending on the muscles affected and the degree to which they are affected."

No cure exists for CMT, but Garcia hopes that insights gleaned from the new mouse model may aid the development of therapeutic interventions.

"By learning about the basics of disease initiation and progression, perhaps we can soon test therapeutics designed to stop or reverse the pathology," he said.

Garcia and colleagues created the mouse model by inserting a mutated copy of a human gene into fertilized mouse egg cell. Similar mutations in that particular gene have been linked to a specific form of CMT, known as Type 2e, in humans. The cells were then implanted into female mice. The offspring that contained the mutated human gene were reared and observed for signs of CMT.

At four months of age, the mice developed a condition with several of the same hallmarks of humans with CMT Type 2e, including muscle wasting and weakness, foot deformities, and reduced ability to move. No significant neural problems or detachment of the nerves from the muscle was observed in the mice, which surprised the scientists.


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Contact: Timothy Wall
walltj@missouri.edu
573-882-3346
University of Missouri-Columbia
Source:Eurekalert

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