Discovery of target that could ease spinal muscular atrophy symptoms
Radiology and cardiovascular researchers from the Medical University of South Carolina in Charleston, S.C., today presented new data that shows the risk of cancer from exposure to radiation during computed tomography for cardiovascular disease has been overstated and that new estimates are several times lower than previously published conclusions. The MUSC researchers presented their findings
Full Post: Cancer risk from cardiac CT overstated
There is no cure for spinal muscular atrophy (SMA), a genetic disorder that causes the weakening of muscles and is the leading genetic cause of infant death, but University of Missouri researchers have discovered a new therapeutic target that improves deteriorating skeletal muscle tissue caused by SMA.
The new therapy enhanced muscle strength, improved gross motor skills and increased the lifespan in a SMA model.
“This therapy does not directly target the disease-causing gene; instead it targets the pathways that affect muscle maintenance and growth,” said Chris Lorson, investigator in the Christopher S. Bond Life Sciences Center and associate professor of veterinary pathobiology in the MU College of Veterinary Medicine. “We administered a particular protein, follistatin, to SMA mouse models to determine if enhanced muscle mass impacts the symptoms of SMA. After treatment, the mice had increased muscle mass, gross motor function improvement and an increase in average life span of 30 percent.”
With the therapy, MU researchers inhibited myostatin, a protein that limits muscle tissue growth. Myostatin activity can be reduced significantly by enabling several proteins that bind to myostatin, including follistatin. When myostatin is inhibited, muscle mass and strength increase.
SMA is caused by the loss of survival motor neuron-1(SMN1). Humans have a nearly identical copy gene called SMN2. Because of a single molecular difference, SMN2 alone cannot compensate for the loss of SMN1.
“While most work in the SMA field has logically focused on targeting the SMN2 gene, the results of this study suggest that skeletal muscle is a viable therapeutic target that may reduce the severity of some SMA symptoms,” said Lorson, who also is the scientific director for FightSMA, a private spinal muscular atrophy research foundation in Richmond, Va. “Because follistatin does not alter the expression level of SMN protein, the most effective treatment would combine strategies that directly address the genetic defect in SMA as well as SMN-independent strategies that enhance skeletal muscle.”
Spinal muscular atrophy, a neurodegenerative disorder that causes the weakening of muscles, is the leading cause of infant death and occurs in 1 in 6,000 live births. While trans-splicing (a form of molecular therapy) has had impressive results as a treatment for spinal muscular atrophy in cell-based models of disease, scientists have been unable to
Full Post: Trans-splicing therapy for spinal muscular atrophy closer to clinical use
Cowling et al. report how to build muscle mass with FHL1. The protein partners with and activates the transcription factor, NFATc1. Encouraging this partnership might provide a possible treatment for muscle wasting disorders. The article will appear in the December 15, 2008 issue of The Journal of Cell Biology (JCB). Mutations in ‘Four and
Full Post: How to build muscle mass with four and a half LIM domains 1
An incurable, paralyzing disease in humans is now genetically linked to a similar disease in dogs. Researchers from the University of Missouri and the Broad Institute have found that the genetic mutation responsible for degenerative myelopathy (DM) in dogs is the same mutation that causes amyotrophic lateral sclerosis (ALS), the human disease also known as
Full Post: Lou Gehrig’s disease in humans has genetic links to degenerative myelopathy in dogs
Dalhousie Medical School researchers have discovered that embryonic stem cells may play a critical role in helping people with nerve damage and motor neuron diseases, such as amyotrophic lateral sclerosis (ALS), regain muscular strength. Motor neurons reside in the spinal cord and control limb movements by enabling muscles to contract. Diseases like ALS cause them
Full Post: Researchers use embryonic stem cells from mice to grow motor neurons
With up to half of a person’s body mass consisting of skeletal muscle, chronic inflammation of those muscles - which include those found in the limbs - can result in significant physical impairment. According to University of Illinois kinesiology and community health professor Kimberly Huey, past research has demonstrated that the antioxidant properties of Vitamin
Full Post: Vitamin E supplementation may reduce inflammation in the brain