Researchers replicate FSH muscular dystrophy in mice

September 15, 2017, University of Minnesota

A new study published in the journal Nature Communications describes a breakthrough in research related to facioscapulohumeral muscular dystrophy (FSHD). The debilitating genetic disease - which has no approved treatment - affects an estimated 38,000 Americans and causes degeneration and wasting of the skeletal muscles.

Scientists from the University of Minnesota Medical School inserted into mice a gene called DUX4, which is believed to cause FSHD in humans. When they activated the gene in the mice skeletal , the animals developed a slow progressive with key features of the human disease. Previous attempts to generate a mouse model for FSHD have not shown FSHD-like muscle disease.

"In genetic diseases for which therapies have been developed, like Duchenne muscular dystrophy, mouse models like the one we discovered were essential to the development and testing of potential therapies," said principal investigator Michael Kyba, Ph.D., professor within the University of Minnesota Medical School and member of the Masonic Cancer Center, University of Minnesota, "Now that this hurdle has been overcome for FSHD, we have great hope for therapy development.

In addition to providing a way to test therapies for FSHD, the mouse model allows scientists to understand why muscle degenerates in FSHD patients. According to the study's lead author Darko Bosnakovski, Ph.D., "FSHD is a very unusual muscular dystrophy with a completely different and poorly understood mechanism of muscle damage compared to the more well-known muscular dystrophies. We really do not know why muscle disappears in these patients."

The researchers were surprised to find that when the DUX4 gene was turned on in muscle cells, the mice muscle became inflamed and other cells in the tissue responded by proliferating and overproducing collagen. This led to muscle fibrosis, a condition where contractile muscle cells become replaced by matrix, leading to loss of muscle strength. The involvement of these matrix-producing cells, known as fibroadipogenic progentiors (FAPs), was previously unknown, and suggests that drugs targeting FAPs or fibrosis might be candidates for slowing down the progression of FSHD.

"This study already points to some targets for future drugs, which is very exciting," Kyba added. "With this , I'm hopeful we'll make progress in our pursuit for a cure."

Explore further: Researchers find animal model for understudied type of muscular dystrophy

More information: Darko Bosnakovski et al, Muscle pathology from stochastic low level DUX4 expression in an FSHD mouse model, Nature Communications (2017). DOI: 10.1038/s41467-017-00730-1

Related Stories

Researchers find animal model for understudied type of muscular dystrophy

August 28, 2014
Researchers at the University of Minnesota have developed an animal research model for facioscapulohumeral muscular dystrophy (FSHD) to be used for muscle regeneration research as well as studies of the effectiveness of potential ...

Successful regeneration of human skeletal muscle in mice enables accelerated research in muscular dystrophy

January 27, 2014
Researchers at the Kennedy Krieger Institute recently announced study findings showing the successful development of a humanized preclinical model for facioscapulohumeral muscular dystrophy (FSHD), providing scientists with ...

Research team discovers genes and disease mechanisms behind a common form of muscular dystrophy

January 12, 2012
Continuing a series of groundbreaking discoveries begun in 2010 about the genetic causes of the third most common form of inherited muscular dystrophy, an international team of researchers led by a scientist at Fred Hutchinson ...

Mutation found in patients without a nose

September 15, 2017
A mutated gene in patients lacking a nose has been identified by an international team, a first step toward understanding nose development and possible therapies for another condition.

New target may slow disease progression in Duchenne muscular dystrophy

September 12, 2016
Duchenne muscular dystrophy is a chronic disease causing severe muscle degeneration that is ultimately fatal. As the disease progresses, muscle precursor cells lose the ability to create new musclar tissue, leading to faster ...

Recommended for you

Basic research in fruit flies leads to potential drug for diseases afflicting millions

July 13, 2018
River blindness and elephantiasis are debilitating diseases caused by parasitic worms that infect as many as 150 million people worldwide. They are among the "neglected tropical diseases" for which better treatments are desperately ...

Light based cochlear implant restores hearing in gerbils

July 12, 2018
A team of researchers with members from a variety of institutions across Germany has developed a new type of cochlear implant—one based on light. In their paper published in the journal Science Translational Medicine, the ...

Researchers discover gene that controls bone-to-fat ratio in bone marrow

July 12, 2018
In an unexpected discovery, UCLA researchers have found that a gene previously known to control human metabolism also controls the equilibrium of bone and fat in bone marrow as well as how an adult stem cell expresses its ...

Intensive care patients' muscles unable to use fats for energy

July 12, 2018
The muscles of people in intensive care are less able to use fats for energy, contributing to extensive loss of muscle mass, finds a new study co-led by UCL, King's College London and Guy's and St Thomas' NHS Foundation Trust.

Blood biomarker can help predict disease progression in patients with COPD

July 12, 2018
Some patients with COPD demonstrate signs of accelerated aging. In a new study published in the journal CHEST researchers report that measuring blood telomeres, a marker of aging of cells, can be used to predict future risk ...

Rogue molecules provoke out-of-control scar tissue, strangle organs

July 12, 2018
Normal scar tissue forms to heal an internal wound and quietly retreats when the job is done. But in many common diseases—kidney, liver and lung fibrosis—the scar tissue goes rogue and strangles vital organs. These diseases ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.