• HOME
  • NEWS
  • EXPLORE
    • CAREER
      • Companies
      • Jobs
    • EVENTS
    • iGEM
      • News
      • Team
    • PHOTOS
    • VIDEO
    • WIKI
  • BLOG
  • COMMUNITY
    • FACEBOOK
    • INSTAGRAM
    • TWITTER
Wednesday, August 20, 2025
BIOENGINEER.ORG
No Result
View All Result
  • Login
  • HOME
  • NEWS
  • EXPLORE
    • CAREER
      • Companies
      • Jobs
        • Lecturer
        • PhD Studentship
        • Postdoc
        • Research Assistant
    • EVENTS
    • iGEM
      • News
      • Team
    • PHOTOS
    • VIDEO
    • WIKI
  • BLOG
  • COMMUNITY
    • FACEBOOK
    • INSTAGRAM
    • TWITTER
  • HOME
  • NEWS
  • EXPLORE
    • CAREER
      • Companies
      • Jobs
        • Lecturer
        • PhD Studentship
        • Postdoc
        • Research Assistant
    • EVENTS
    • iGEM
      • News
      • Team
    • PHOTOS
    • VIDEO
    • WIKI
  • BLOG
  • COMMUNITY
    • FACEBOOK
    • INSTAGRAM
    • TWITTER
No Result
View All Result
Bioengineer.org
No Result
View All Result
Home NEWS Science News Biology

UF Health researchers find genetic factors that cause muscle weakness, wasting disorder

Bioengineer by Bioengineer
July 11, 2017
in Biology
Reading Time: 2 mins read
0
Share on FacebookShare on TwitterShare on LinkedinShare on RedditShare on Telegram

GAINESVILLE, Fla. — For years, the underlying process that causes a debilitating muscle disorder in infants and young children has been largely unknown. Now, a group that includes University of Florida Health genetics researchers has identified the fundamental mechanism that causes congenital myotonic dystrophy.

The researchers have also developed specialized mouse models that will allow potential drug therapies to be tested. Taken together, the findings are a crucial step in addressing a disorder that arises from abnormally expanded stretches of repeats in DNA that alter muscle and brain development. The findings are published today in the journal Genes & Development.

Researchers now have a better understanding of how the misregulation of developmental genetic "switches" in unborn children gives rise to congenital myotonic dystrophy, said Maurice Swanson, Ph.D., a professor in the UF College of Medicine's department of molecular genetics and microbiology and associate director of the UF Center for NeuroGenetics.

"The ultimate goal is to come up with ideas for treating children with this disease soon after birth to minimize the long-term effects of the disorder," Swanson said.

In addition to severe muscle weakness, congenital myotonic dystrophy patients can have respiratory problems and intellectual deficits. The disorder is estimated to affect one out of every 3,500 to 16,000 individuals.

Within cells, messenger RNA molecules receive instructions from DNA and carry out protein-building activities. Using human muscle tissue samples, the researchers found that severe RNA misprocessing is a major cause of congenital muscular dystrophy. Specifically, they identified several abnormalities in the genetic coding process that give rise to the disease, including one that affects the way in which a single gene produces multiple proteins.

Using mouse models that mimic the disease in humans, the researchers also showed disruption of a particular protein during prenatal development results in muscle disorders at birth. Devising mouse models that replicate the effects of congenital myotonic dystrophy is especially important because there are limitations, including limited sample availability, to studying the disease in human tissue, Swanson said.

Altogether, the results show that disrupting certain RNA processing activities before birth alters the genetic switches that are essential for muscle tissue development. That is significant because knowing where and when congenital myotonic dystrophy arises within genes is an important first step on the road to a potential cure, Swanson said.

"This provides us important new information about where we should go next and what kinds of therapeutics might be effective against this hereditary disease," Swanson said.

###

Researchers from the Osaka University Graduate School of Medicine in Osaka, Japan, collaborated on the research. The study was supported by the National Institutes of Health, the Japan Society for the Promotion of Science, and the Myotonic Dystrophy and Wyck foundations.

Media Contact

Doug Bennett
[email protected]
352-273-5706
@uflorida

http://www.ufl.edu

http://ufhealth.org/news/2017/uf-health-researchers-identify-genetic-factors-cause-muscle-weakness-and-wasting-disorder

Share12Tweet7Share2ShareShareShare1

Related Posts

UCF Scientist Validates Genetic Restoration Success in Florida Panthers

UCF Scientist Validates Genetic Restoration Success in Florida Panthers

August 20, 2025
Researchers Engineer Cells to Develop Biological Qubits in Pioneering Multidisciplinary Breakthrough

Researchers Engineer Cells to Develop Biological Qubits in Pioneering Multidisciplinary Breakthrough

August 20, 2025

Breakthrough Discoveries in Tendinopathy Treatment: Unveiling the Active Components of Rhizoma Coptidis

August 20, 2025

Engineered ‘Superfood’ Supplement Enhances Bee Colony Reproduction, Aiding Conservation Efforts

August 20, 2025
Please login to join discussion

POPULAR NEWS

  • blank

    Molecules in Focus: Capturing the Timeless Dance of Particles

    141 shares
    Share 56 Tweet 35
  • Neuropsychiatric Risks Linked to COVID-19 Revealed

    80 shares
    Share 32 Tweet 20
  • Modified DASH Diet Reduces Blood Sugar Levels in Adults with Type 2 Diabetes, Clinical Trial Finds

    60 shares
    Share 24 Tweet 15
  • Predicting Colorectal Cancer Using Lifestyle Factors

    47 shares
    Share 19 Tweet 12

About

We bring you the latest biotechnology news from best research centers and universities around the world. Check our website.

Follow us

Recent News

Nitroxoline: New Inhibitor of NLRP3 Pyroptosis

New Book Provides Fresh Insights into Organizational Transformation

High-Salt Diet Linked to Brain Inflammation and Increased Blood Pressure, Study Reveals

  • Contact Us

Bioengineer.org © Copyright 2023 All Rights Reserved.

Welcome Back!

Login to your account below

Forgotten Password?

Retrieve your password

Please enter your username or email address to reset your password.

Log In
No Result
View All Result
  • Homepages
    • Home Page 1
    • Home Page 2
  • News
  • National
  • Business
  • Health
  • Lifestyle
  • Science

Bioengineer.org © Copyright 2023 All Rights Reserved.