A potential way to treat muscular dystrophy directly targets muscle repair instead of the underlying genetic defect that usually leads to the disease.
Muscular dystrophies are a group of muscle diseases characterized by skeletal muscle wasting and weakness. Mutations in certain proteins, most commonly the protein dystrophin, cause muscular dystrophy in humans and also in mice.
A University of Michigan team led by cell biologist Haoxing Xu, discovered that mice missing a critical calcium channel inside the cell, called TRPML1, showed similar muscle defects as those present in muscular dystrophy patients. Though these mice did not have the defect in dystrophin, they still developed muscular dystrophy-like muscle characteristics.
When researchers increased the activity of the calcium channel in the muscular dystrophic mice, it improved muscle membrane repair and restored muscle function.
"The hope is that the same calcium channel will work in people with muscular dystrophy," Xu said.
The long-term plan is to develop clinical trials of a drug that would provide the extra activity of TRPML1.
The findings are scheduled for advance online publication Sept. 14 in Nature Medicine. Xiping Cheng, U-M Department of Molecular, Cellular, and Developmental Biology, is first author on the paper.
While the treatment in mice using a gene therapy approach involved a viral carrier to insert extra TRPML1 channels in muscle, Xu says his team has recently discovered a drug that can activate this calcium channel. This drug might provide a similar boost to muscle membrane repair in human muscular dystrophy patients, but this requires further test in the laboratory.
This research was supported by grants from National Institute of Arthritis and Musculoskeletal and Skin Diseases and National Institute of Neurological Disorders and Stroke.
More on Haoxing Xu: http://bit.ly/1xIDxux
Laura Bailey | Eurek Alert!
Researchers identify potentially druggable mutant p53 proteins that promote cancer growth
09.12.2016 | Cold Spring Harbor Laboratory
Plant-based substance boosts eyelash growth
09.12.2016 | Fraunhofer-Institut für Angewandte Polymerforschung IAP
Physicists of the University of Würzburg have made an astonishing discovery in a specific type of topological insulators. The effect is due to the structure of the materials used. The researchers have now published their work in the journal Science.
Topological insulators are currently the hot topic in physics according to the newspaper Neue Zürcher Zeitung. Only a few weeks ago, their importance was...
In recent years, lasers with ultrashort pulses (USP) down to the femtosecond range have become established on an industrial scale. They could advance some applications with the much-lauded “cold ablation” – if that meant they would then achieve more throughput. A new generation of process engineering that will address this issue in particular will be discussed at the “4th UKP Workshop – Ultrafast Laser Technology” in April 2017.
Even back in the 1990s, scientists were comparing materials processing with nanosecond, picosecond and femtosesecond pulses. The result was surprising:...
Have you ever wondered how you see the world? Vision is about photons of light, which are packets of energy, interacting with the atoms or molecules in what...
A multi-institutional research collaboration has created a novel approach for fabricating three-dimensional micro-optics through the shape-defined formation of porous silicon (PSi), with broad impacts in integrated optoelectronics, imaging, and photovoltaics.
Working with colleagues at Stanford and The Dow Chemical Company, researchers at the University of Illinois at Urbana-Champaign fabricated 3-D birefringent...
In experiments with magnetic atoms conducted at extremely low temperatures, scientists have demonstrated a unique phase of matter: The atoms form a new type of quantum liquid or quantum droplet state. These so called quantum droplets may preserve their form in absence of external confinement because of quantum effects. The joint team of experimental physicists from Innsbruck and theoretical physicists from Hannover report on their findings in the journal Physical Review X.
“Our Quantum droplets are in the gas phase but they still drop like a rock,” explains experimental physicist Francesca Ferlaino when talking about the...
16.11.2016 | Event News
01.11.2016 | Event News
14.10.2016 | Event News
09.12.2016 | Life Sciences
09.12.2016 | Ecology, The Environment and Conservation
09.12.2016 | Health and Medicine