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New Therapeutic Insight Into Duchenne Muscular Dystrophy

Date:
April 2, 2007
Source:
Cold Spring Harbor Laboratory
Summary:
Medical researchers identify a key genetic component of and possible therapeutic target for Duchenne muscular dystrophy.

In the April 1st issue of Genes & Development, Dr. Bruce Spiegelman (Dana Farber Cancer Institute) and colleagues identify a key genetic component of and possible therapeutic target for Duchenne muscular dystrophy.

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Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophy, affecting about 1 in 3000 males each year. It is an X-linked recessive disease, in which mutations in the dystrophin gene causes progressive and degenerative muscle weakness. DMD is generally lethal by age 30.

Dr. Spiegelman and colleagues found that a protein called PGC-1alpha regulates the point of connection between the end of a motor neuron and a muscle fiber -- what researchers call the "neuromuscular junction." Electrical impulses travel through the neuromuscular junction, ultimately causing the muscle to contract. Previous research has shown that PGC-1alpha expression is induced by physical exercise and motor neuron activity, and mediates the anti-atrophic effects of nerve activity on muscle mass.

Dr. Spiegelman and colleagues analyzed the function of PGC-1alpha in a mouse model of DMD. They found that PGC-1alpha activates the expression of several genes that are aberrantly inactivated in DMD. In fact, by inducing PGC-1alpha expression in these transgenic mice, the scientists were able to improve DMD symptoms.

"These data clearly show that experimental elevation of PGC-1 alpha has therapeutic promise in an animal model of Duchene's muscular dystrophy. We hope this will lead eventually to therapeutics for a terrible disease for which there is no effective treatment at the present time," explains Dr. Spiegelman.


Story Source:

The above story is based on materials provided by Cold Spring Harbor Laboratory. Note: Materials may be edited for content and length.


Cite This Page:

Cold Spring Harbor Laboratory. "New Therapeutic Insight Into Duchenne Muscular Dystrophy." ScienceDaily. ScienceDaily, 2 April 2007. <www.sciencedaily.com/releases/2007/04/070402102412.htm>.
Cold Spring Harbor Laboratory. (2007, April 2). New Therapeutic Insight Into Duchenne Muscular Dystrophy. ScienceDaily. Retrieved December 20, 2014 from www.sciencedaily.com/releases/2007/04/070402102412.htm
Cold Spring Harbor Laboratory. "New Therapeutic Insight Into Duchenne Muscular Dystrophy." ScienceDaily. www.sciencedaily.com/releases/2007/04/070402102412.htm (accessed December 20, 2014).

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