Researchers Improve Phenotypes of Duchenne Muscular Dystrophy
MINNEAPOLIS, MN- December 27, 2019 – About one in 5,000 boys is affected by Duchenne muscular dystrophy (DMD), which is a devastating genetic disorder characterized by progressive muscle weakness due to mutations in the dystrophin gene. Researchers from the University of Minnesota Medical School found a way to improve the phenotypes of DMD with a druggable target.
A new study published in PLOS Genetics shows that targeting blood vessels in the skeletal muscle of a DMD model mouse improves the phenotypes of DMD.
“We first used genetic techniques to show that something didn’t need to be changed before birth. You can change something in the body after birth and see the same outcomes,” said lead author Atsushi Asakura, PhD, Associate Professor in the Department of Neurology at the Medical School. “Then, we used different techniques to do that in a druggable manner.” Asakura is also a faculty member at the Stem Cell Institute and at the Paul and Sheila Wellstone Muscular Dystrophy Center.
The complications of DMD begin when the muscle stem cells start to exhaust themselves. Researchers worked in collaboration with Shire Human Genetic Therapies Inc., now part of Takeda Pharmaceutical Company Ltd., to test out reagents that increase the amount of blood vessels in the muscle, which in turn, increase the amount of stem cells. Then, those stem cells are able to regenerate the muscle, which improves the look and function of the muscle.
“The most important part of these findings is that it is a very druggable target,” said Mayank Verma, who is part of the Medical Scientist Training Program (MD/PhD), now a fourth-year medical student and first author of this paper. “We found the biological basis of what happened and discovered a way to exploit it pharmacologically.”
Asakura and Verma are now working with Shire Human Genetic Therapies, Inc. to develop an antibody that is applicable for humans and able to be used in a clinical trial. They hope that this will lead to an alternative way of treating DMD.
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