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New model of muscular dystrophy provides insight into disease development

Date:
August 27, 2012
Source:
Journal of Clinical Investigation
Summary:
Researchers report the development of a mouse model of Fukuyama's muscular dystrophy that copies the pathology seen in the human form of the disease.

Muscular dystrophy is a complicated set of genetic diseases in which genetic mutations affect the various proteins that contribute to a complex that is required for a structural bridge between muscle cells and the extracellular matrix (ECM) that provides the physical and chemical environment required for their development and function.

The affects of these genetic mutations in patients vary widely, even when the same gene is affected. In order to develop treatments for this disease, it is important to have an animal model that accurately reflects the course of the disease in humans. In this issue of the Journal of Clinical Investigation, researchers at the University of Iowa report the development of a mouse model of Fukuyama's muscular dystrophy that copies the pathology seen in the human form of the disease.

By removing the gene fukutin from mouse embryos at various points during development, researchers led by Kevin Campbell were able to determine that fukutin disrupts important modifications of the protein dystroglycan that prevent the muscle cells from attaching to the ECM. Disruption of the gene earlier in development led to a more severe form of the disease, suggesting that fukutin is important for muscle maturation. Disruptions in later stages of development caused a less severe form of the disease. In a companion piece, Elizabeth McNally of the University of Chicago discusses the implications of this disease model for the development of new therapies to treat muscular dystrophy.


Story Source:

The above story is based on materials provided by Journal of Clinical Investigation. Note: Materials may be edited for content and length.


Journal Reference:

  1. Aaron M. Beedle, Amy J. Turner, Yoshiaki Saito, John D. Lueck, Steven J. Foltz, Marisa J. Fortunato, Patricia M. Nienaber, Kevin P. Campbell. Mouse fukutin deletion impairs dystroglycan processing and recapitulates muscular dystrophy. Journal of Clinical Investigation, 2012; DOI: 10.1172/JCI63004

Cite This Page:

Journal of Clinical Investigation. "New model of muscular dystrophy provides insight into disease development." ScienceDaily. ScienceDaily, 27 August 2012. <www.sciencedaily.com/releases/2012/08/120827122408.htm>.
Journal of Clinical Investigation. (2012, August 27). New model of muscular dystrophy provides insight into disease development. ScienceDaily. Retrieved September 1, 2014 from www.sciencedaily.com/releases/2012/08/120827122408.htm
Journal of Clinical Investigation. "New model of muscular dystrophy provides insight into disease development." ScienceDaily. www.sciencedaily.com/releases/2012/08/120827122408.htm (accessed September 1, 2014).

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