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New Mouse Model Of Adult-onset Muscular Dystrophy Allows Disease Mechanisms To Be Determined

Date:
September 12, 2007
Source:
Journal of Clinical Investigation
Summary:
The most common form of adult-onset muscular dystrophy is myotonic dystrophin type 1 (DM1). DM1 is an inherited disease that has many symptoms including progressive muscle wasting and heart problems. Heart problems occur in most individuals with DM1 and account for a substantial proportion of disease-related deaths.

The most common form of adult-onset muscular dystrophy is myotonic dystrophin type 1 (DM1).

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DM1 is an inherited disease that has many symptoms including progressive muscle wasting and heart problems. Heart problems occur in most individuals with DM1 and account for a substantial proportion of disease-related deaths.

In a new study, Thomas Cooper and colleagues at Baylor College of Medicine, Houston, describe how they have developed a mouse model of DM1 heart problems that has enabled them to garner more insight into the molecular mechanisms of the disease.

DM1 is characterized by an accumulation of RNA in the nucleus, which alters the functions of proteins known as CUGBPs causing aberrant alternative slicing of certain pre-mRNAs.

Using their new mouse model of DM1 Cooper and colleagues were able to show that upregulation of CUGBP1 correlated with alteration in alternative splicing patterns, indicating that this is an early step in the pathogenesis of DM1.

Article: Elevation of RNA-binding protein CUGBP1 is an early event in an inducible heart-specific mouse model of myotonic dystrophy, Journal of Clinical Investigation


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


Cite This Page:

Journal of Clinical Investigation. "New Mouse Model Of Adult-onset Muscular Dystrophy Allows Disease Mechanisms To Be Determined." ScienceDaily. ScienceDaily, 12 September 2007. <www.sciencedaily.com/releases/2007/09/070906214953.htm>.
Journal of Clinical Investigation. (2007, September 12). New Mouse Model Of Adult-onset Muscular Dystrophy Allows Disease Mechanisms To Be Determined. ScienceDaily. Retrieved November 22, 2014 from www.sciencedaily.com/releases/2007/09/070906214953.htm
Journal of Clinical Investigation. "New Mouse Model Of Adult-onset Muscular Dystrophy Allows Disease Mechanisms To Be Determined." ScienceDaily. www.sciencedaily.com/releases/2007/09/070906214953.htm (accessed November 22, 2014).

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