Skip to main content
Accessibility  |  Contact  |  Privacy  |  Terms of Service

New Therapy may Ease Spinal Muscular Atrophy Symptoms - MU Researchers

  • Published: 2009-01-07 (Revised/Updated 2010-09-28) : Author: University of Missouri
  • Synopsis: Researchers have discovered a new therapeutic target that improves deteriorating skeletal muscle tissue caused by Spinal Muscular Atrophy.

Main Document

University 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.

Similar Topics

1 : Metabolomics - Promising Tool for Advancing in Treatment Personalization of Oncological Patients : Bentham Science Publishers.
2 : Effects of Genetic Engineering : Disabled World.
3 : Majority in Favor of Spinal Muscular Atrophy (SMA) Screening : University of Warwick.
4 : New Approach to Studying Chromosomes' Centers May Reveal Link to Down Syndrome and More : Michigan Medicine - University of Michigan.
5 : Drinking Glasses Can Contain Potentially Harmful Levels of Lead and Cadmium : University of Plymouth.
From our Medical Research section - Full List (159 Items)

Submit disability news, coming events, as well as assistive technology product news and reviews.

Loan Information for low income singles, families, seniors and disabled. Includes home, vehicle and personal loans.

Famous People with Disabilities - Well known people with disabilities and conditions who contributed to society.

List of awareness ribbon colors and their meaning. Also see our calendar of awareness dates.

Blood Pressure Chart - What should your blood pressure be, and information on blood group types/compatibility.

1 : The Difference in Hospital Meals Around The World
2 : Research Helps Explain Why People Experience Muscle Loss in Old Age
3 : Study Finds Therapy Dogs Help Stressed University Students
4 : Autism's Social Deficits Reversed by Romidepsin Anti-Cancer Drug
5 : New Wearable Technology May Hold Big Benefits for People With Parkinson's Disease


Disclaimer: This site does not employ and is not overseen by medical professionals. Content on Disabled World is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of a physician or other qualified health provider with any questions you may have regarding a medical condition. See our Terms of Service for more information.

Reporting Errors: Disabled World is an independent website, your assistance in reporting outdated or inaccurate information is appreciated. If you find an error please let us know.