While scientists have identified one protein, dystrophin, as an important piece to curing the disease, another part of the mystery has eluded scientists for the past 14 years. Now, one University of Missouri scientist and his team have identified the location of the genetic material responsible for a molecular compound that is vital to curing the disease.
Duchenne muscular dystrophy (DMD), predominantly affecting males, is the most common type of muscular dystrophy. Patients with Duchenne muscular dystrophy have a gene mutation that disrupts the production of dystrophin. Absence of dystrophin starts a chain reaction that eventually leads to muscle cell degeneration and death. A previous study by Dongsheng Duan, associate professor of molecular microbiology and immunology, discovered a potential delivery method to replace the mutated genes with healthy genes. Following the replacement of these genes, Duan observed that dystrophin production was restarted in animals with muscular dystrophy.
However, while dystrophin is vital for muscle development, the protein also needs several "helpers" to maintain the muscle tissue. One of these "helper" molecular compounds is nNOS, which produces nitric oxide. This is important for muscles that are in use during high intensity movements, such as exercise.
"When you exercise, not only does the muscle contract, but the blood vessels are constricted," Duan said. "nNOS is important because it produces nitric oxide that relaxes the blood vessels, helping to maintain the muscle with a healthy blood supply. If no blood reaches the muscle cells, they will eventually die. In DMD patients, this means the disease will progress as the muscle cells are replaced by the fibrous, bony or fatty tissue."
Since 1994, researchers have known about the importance of nNOS, but have not been able to determine how to produce nNOS in a dystrophic muscle, or a muscle lacking dystrophin. Many scientists have tried to solve this mystery without success. In his most recent study, published Monday in The Journal of Clinical Investigation, Duan and his team identified the location of genetic material responsible for the production of nNOS.
Following the identification of the genetic material, Duan and his team created a series of new dystrophin genes. In their study, they used dystrophic mice to test the efficacy of these new genes. After genetically correcting the mice with the new dystrophin gene, Duan's team discovered that the missing nNOS was now restored in the dystrophic muscle. The mice that received the new gene did not experience muscle damage or fatigue following exercise.
"With this new discovery, we've solved a longstanding mystery of Duchenne Muscular Dystrophy," Duan said. "This will change the way we approach gene therapy for DMD patients in the future. With this study, we have finally found the genetic material that can fully restore all the functions required for correcting a dystrophic muscle and turning it into a normal muscle."
Christian Basi | EurekAlert!
Staying in Shape
16.08.2018 | Max-Planck-Institut für molekulare Zellbiologie und Genetik
Chips, light and coding moves the front line in beating bacteria
16.08.2018 | Okinawa Institute of Science and Technology (OIST) Graduate University
Scientists at the University of California, Los Angeles present new research on a curious cosmic phenomenon known as "whistlers" -- very low frequency packets...
Scientists develop first tool to use machine learning methods to compute flow around interactively designable 3D objects. Tool will be presented at this year’s prestigious SIGGRAPH conference.
When engineers or designers want to test the aerodynamic properties of the newly designed shape of a car, airplane, or other object, they would normally model...
Researchers from TU Graz and their industry partners have unveiled a world first: the prototype of a robot-controlled, high-speed combined charging system (CCS) for electric vehicles that enables series charging of cars in various parking positions.
Global demand for electric vehicles is forecast to rise sharply: by 2025, the number of new vehicle registrations is expected to reach 25 million per year....
Proteins must be folded correctly to fulfill their molecular functions in cells. Molecular assistants called chaperones help proteins exploit their inbuilt folding potential and reach the correct three-dimensional structure. Researchers at the Max Planck Institute of Biochemistry (MPIB) have demonstrated that actin, the most abundant protein in higher developed cells, does not have the inbuilt potential to fold and instead requires special assistance to fold into its active state. The chaperone TRiC uses a previously undescribed mechanism to perform actin folding. The study was recently published in the journal Cell.
Actin is the most abundant protein in highly developed cells and has diverse functions in processes like cell stabilization, cell division and muscle...
Scientists have discovered that the electrical resistance of a copper-oxide compound depends on the magnetic field in a very unusual way -- a finding that could help direct the search for materials that can perfectly conduct electricity at room temperatur
What happens when really powerful magnets--capable of producing magnetic fields nearly two million times stronger than Earth's--are applied to materials that...
08.08.2018 | Event News
27.07.2018 | Event News
25.07.2018 | Event News
16.08.2018 | Life Sciences
16.08.2018 | Earth Sciences
16.08.2018 | Life Sciences