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Disease models

Modeling skeletal muscle deficits in Huntington's disease (HD)

Mouse muscle fibers could be useful for modeling HD-associated musculoskeletal deficits and could aid the development of new therapies to treat the disease. In a mouse model for HD, ex vivo skeletal muscle fibers were hyperexcitable because of dysfunction in muscle chloride channel 1 (Clcn1) and in potassium channels. In the affected muscle fibers, Clcn1 and potassium channel mRNA levels were both lower than those in wild-type muscle fibers, and the Clcn1 mRNA appeared aberrantly spliced. Next steps include assessing the development of the observed muscle fiber deficits in longitudinal studies, assessing other mouse models and determining whether such deficits are present in muscle fibers from patients with HD.

SciBX 6(22); doi:10.1038/scibx.2013.556
Published online June 6, 2013

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Waters, C.W. et al. Proc. Natl. Acad. Sci. USA; published online May 13, 2013;
Contact: Andrew A. Voss, California State Polytechnic University, Pomona, Calif.