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Grant - Summer 2017 - DMD – Joseph Metzger, Ph.D.

“Numerous inherited and acquired cardiac diseases are directly linked to deficits in dystrophin protein, including, for example, DMD, in which there is the complete loss of the dystrophin protein, and by viral infection-induced cardiomyopathy, wherein intact dystrophin is cleaved into truncated fragments,” Joseph Metzger says. “A detailed understanding of the structure-function relationship of dystrophin fragments, truncations and isoforms is required for future long-term success of DMD therapies.”
Joseph Metzger, professor and chair of the department of integrative biology and physiology at the University of Minnesota Medical School in Minneapolis, was awarded an MDA research grant totaling $300,000 over three years to assess different versions of shortened dystrophin protein and determine which is most stable and able to provide a functional benefit to the heart in Duchenne muscular dystrophy (DMD).
A number of therapies in development for DMD center on the introduction of a truncated (shortened) form of dystrophin protein. These therapies include exon skipping drugs, gene therapies, and CRISPR-based therapies.
However, different versions of the shortened protein have been found to vary in stability and function.
With the goal of determining which version of truncated dystrophin protein is best, Metzger and colleagues will examine the effects of truncation on the stability of dystrophin over time and on its ability to protect the mouse heart from damage, with future plans to extend the work to include skeletal muscle studies as well.
Critical new information will be obtained on the stability of truncated dystrophins essential for future success of dystrophin restitution in muscular dystrophy models. If successful, the detailed structure-function studies could have critical implications for the long-term success of current and proposed gene-based therapies for DMD.
Grantee: DMD – Joseph Metzger, Ph.D.
Grant type: Research Grant
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