Neuroscientists have discovered a specific enzyme that plays a critical role in spinal muscular atrophy, and that suppressing this enzyme's activity, could markedly reduce the disease's severity and improve patients' lifestyles.
Spinal muscular atrophy is a debilitating disease that causes weakness and wasting of the muscles. The disease ranges in severity with patients experiencing different symptoms, from the inability to sit up and stand, to trouble walking. In its severest form, the disease results in difficulty breathing and leads to death.
From left to right: Microscopic images comparing the hind leg muscles of normal mice, mice with spinal muscular atrophy, and mice with spinal muscular atrophy that have had the enzyme JNK3 inhibited. JNK3 deficiency appears to reduce muscle degeneration (muscle-wasting) and increase muscle growth in mice with the disease.
Image courtesy of the journal Human Molecular Genetics
"We've identified the enzyme JNK3 as a therapeutic target to treat the symptoms of spinal muscular atrophy," says Laxman Gangwani, Ph.D., an associate professor in the Center of Emphasis in Neuroscience at Texas Tech University Health Sciences Center El Paso (TTUHSC El Paso) who led the research.
In a recent study published in the December 15th issue of Human Molecular Genetics, Dr. Gangwani and his team of researchers at TTUHSC El Paso describe how mice with spinal muscular atrophy saw great improvement when the JNK3 enzyme was genetically inhibited to eliminate its activity. The finding suggests that patients with spinal muscular atrophy could also see improvement if treated with a drug that suppresses the activity of JNK3.
"We saw less muscle degeneration, more muscle growth and better muscle strength, and improvement in overall movement," says Gangwani. "What's more striking was a four-fold reduction in initial mortality period and a two-fold increase in total lifespan."
Spinal muscular atrophy is caused by a genetic mutation that triggers the loss of spinal cord motor neurons -- neurons that help control the body's movements. As the neurons deteriorate, so does one's ability to control their own movement.
This same study, however, found that inhibiting JNK3 in mice prevented the loss of motor neurons, which is particularly important to prevent progression of disease, says Gangwani.
"So far, spinal muscular atrophy research has focused on targeting the genetic mutation to prevent degeneration of spinal motor neurons, but it hasn't been successful because of challenges associated with gene therapy," he says. "This is the first study done that identifies a target, JNK3, that's independent of the genetic mutation of spinal muscular atrophy for novel therapeutic development."
The TTUHSC El Paso research team now plans to test pharmacological compounds that can inhibit JNK3 in mice to identify drug compounds that will slow the progression of the disease and reduce the overall burden of this illness in patients. They've also decided to patent their idea of using a JNK3 inhibitor to treat spinal muscular atrophy.
Gangwani says, "JNK3 represents a promising new avenue of research for clinical advances in developing a treatment."
Veronique Masterson | EurekAlert!
One gene closer to regenerative therapy for muscular disorders
01.06.2017 | Cincinnati Children's Hospital Medical Center
The gut microbiota plays a key role in treatment with classic diabetes medication
01.06.2017 | University of Gothenburg
An international team of scientists has proposed a new multi-disciplinary approach in which an array of new technologies will allow us to map biodiversity and the risks that wildlife is facing at the scale of whole landscapes. The findings are published in Nature Ecology and Evolution. This international research is led by the Kunming Institute of Zoology from China, University of East Anglia, University of Leicester and the Leibniz Institute for Zoo and Wildlife Research.
Using a combination of satellite and ground data, the team proposes that it is now possible to map biodiversity with an accuracy that has not been previously...
Heatwaves in the Arctic, longer periods of vegetation in Europe, severe floods in West Africa – starting in 2021, scientists want to explore the emissions of the greenhouse gas methane with the German-French satellite MERLIN. This is made possible by a new robust laser system of the Fraunhofer Institute for Laser Technology ILT in Aachen, which achieves unprecedented measurement accuracy.
Methane is primarily the result of the decomposition of organic matter. The gas has a 25 times greater warming potential than carbon dioxide, but is not as...
Hydrogen is regarded as the energy source of the future: It is produced with solar power and can be used to generate heat and electricity in fuel cells. Empa researchers have now succeeded in decoding the movement of hydrogen ions in crystals – a key step towards more efficient energy conversion in the hydrogen industry of tomorrow.
As charge carriers, electrons and ions play the leading role in electrochemical energy storage devices and converters such as batteries and fuel cells. Proton...
Scientists from the Excellence Cluster Universe at the Ludwig-Maximilians-Universität Munich have establised "Cosmowebportal", a unique data centre for cosmological simulations located at the Leibniz Supercomputing Centre (LRZ) of the Bavarian Academy of Sciences. The complete results of a series of large hydrodynamical cosmological simulations are available, with data volumes typically exceeding several hundred terabytes. Scientists worldwide can interactively explore these complex simulations via a web interface and directly access the results.
With current telescopes, scientists can observe our Universe’s galaxies and galaxy clusters and their distribution along an invisible cosmic web. From the...
Temperature measurements possible even on the smallest scale / Molecular ruby for use in material sciences, biology, and medicine
Chemists at Johannes Gutenberg University Mainz (JGU) in cooperation with researchers of the German Federal Institute for Materials Research and Testing (BAM)...
19.06.2017 | Event News
13.06.2017 | Event News
13.06.2017 | Event News
23.06.2017 | Physics and Astronomy
23.06.2017 | Physics and Astronomy
23.06.2017 | Information Technology