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Originally published as MBC in Press, 10.1091/mbc.E08-08-0811 on October 22, 2008

Vol. 20, Issue 1, 146-152, January 1, 2009

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Amelioration of Muscular Dystrophy by Transgenic Expression of Niemann-Pick C1

Michelle S. Steen, Marvin E. Adams, Yan Tesch, and Stanley C. Froehner

Department of Physiology and Biophysics, University of Washington, Seattle, WA 98195

Submitted August 7, 2008; Revised October 6, 2008; Accepted October 10, 2008
Monitoring Editor: Robert G. Parton

Duchenne muscular dystrophy (DMD) and other types of muscular dystrophies are caused by the loss or alteration of different members of the dystrophin protein complex. Understanding the molecular mechanisms by which dystrophin-associated protein abnormalities contribute to the onset of muscular dystrophy may identify new therapeutic approaches to these human disorders. By examining gene expression alterations in mouse skeletal muscle lacking {alpha}-dystrobrevin (Dtna–/–), we identified a highly significant reduction of the cholesterol trafficking protein, Niemann-Pick C1 (NPC1). Mutations in NPC1 cause a progressive neurodegenerative, lysosomal storage disorder. Transgenic expression of NPC1 in skeletal muscle ameliorates muscular dystrophy in the Dtna–/– mouse (which has a relatively mild dystrophic phenotype) and in the mdx mouse, a model for DMD. These results identify a new compensatory gene for muscular dystrophy and reveal a potential new therapeutic target for DMD.

This was published online ahead of print in MBC in Press (http://www.molbiolcell.org/cgi/doi/10.1091/mbc.E08-08-0811) on October 22, 2008.

Address correspondence to: Stanley C. Froehner (froehner{at}u.washington.edu)

Abbreviations used: DMD, Duchenne muscular dystrophy; DPC, dystrophin-associated protein complex; TA, tibialis anterior.






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