New Therapy may Ease Spinal Muscular Atrophy Symptoms - MU Researchers
Author: University of Missouri
Published: 2009-01-07 : (Rev. 2010-09-28)
Synopsis and Key Points:
Researchers have discovered a new therapeutic target that improves deteriorating skeletal muscle tissue caused by Spinal Muscular Atrophy.
Main DigestUniversity of Missouri researchers have discovered a new therapeutic target that improves deteriorating skeletal muscle tissue caused by Spinal Muscular Atrophy.
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."
Reference: The study, "Delivery of recombinant follistatin lessens disease severity in a mouse model of Spinal Muscular Atrophy," was published online in the December issue of Human Molecular Genetics. The research team also consisted of graduate students Frankie Rose and Virginia Mattis, and Hans Rindt, an assistant research professor. Recently, Lorson was awarded a $370,000 grant from the Muscular Dystrophy Association to continue his research on the role of muscle in SMA.
- 1 - Brain Games or Training Have No Effect On Decision Making or Cognitive Function : University of Pennsylvania School of Medicine (2017/07/10)
- 2 - Course of Human Evolution Could Change With Gene Editing Technology : Issues in Science and Technology (2016/04/07)
- 3 - Candida Yeast Infection and Mental Illness Link : Johns Hopkins Medicine (2016/05/05)
- 4 - Studying Chromosomes Centers May Reveal Link to Down Syndrome : Michigan Medicine - University of Michigan (2017/11/20)
- 5 - Chagas Disease T. cruzi and Dogs : Emory University (2010/07/12)
- 6 - Potential New Causes for TMAU - A Fishy Smelling Body Odor Disorder : Monell Chemical Senses Center (2017/02/15)
- 7 - Hope for Patients with Friedreich's Ataxia and Related Diseases : University of California, Davis (2017/06/08)
• Disabled World is strictly a news and information website provided for general informational purpose only and does not constitute medical advice. Materials presented are in no way meant to be a substitute for professional medical care by a qualified practitioner, nor should they be construed as such. Any 3rd party offering or advertising on disabled-world.com does not constitute endorsement by Disabled World.
• Please report outdated or inaccurate information to us.