• UCLA Health
  • myUCLAhealth
  • School of Medicine
U Magazine

U Magazine

U Magazine
  • Home
  • Current Issue
  • Centennial Campaign for UCLA Issue
  • Browse U Magazine
  • Letters to the Editor
  • Subscribe
  • Contact
  • UCLA Health
  • myUCLAhealth
  • School of Medicine

U Magazine

Browse U Magazine

  1. Home
  2. Browse U Magazine
Share this
The Cutting Edge

Promising New Approach to Treat Duchenne Muscular Dystrophy

  Promising New Approach to Treat Duchenne Muscular Dystrophy
  Skeletal muscles without dystrophin (column A) and after dystrophin has been restored (column B), using the CRISPR/Cas9 platform developed by UCLA scientists.
Image: UCLA Broad Stem Cell Research Center

UCLA scientists have developed a new approach that could one day be used to treat Duchenne muscular dystrophy. The stem-cell gene therapy would potentially be applicable for 60 percent of people with Duchenne, which affects approximately one-in-5,000 boys in the U.S. and is the most common fatal childhood genetic disease.

The approach uses a technology called CRISPR/Cas9, or clustered regularly interspaced short palindromic repeats, to correct genetic mutations that cause the disease. The researchers designed the approach to be useful in a clinical setting, and “the method is likely 10 years away from being tested in people,” says Melissa Spencer, PhD, co-director of the UCLA Center for Duchenne Muscular Dystrophy and member of the UCLA Broad Stem Cell Research Center.

Duchenne typically occurs through one mutation in a gene called dystrophin, which produces a protein with the same name. There are hundreds of mutations in the dystrophin gene that can lead to the disease, but in 60 percent of people with Duchenne, their mutation will occur within a specific hot spot of the gene. Duchenne mutations cause abnormally low production of the dystrophin protein, which in turn causes muscles to degenerate and become progressively weaker. Symptoms usually begin in early childhood; patients gradually lose mobility and often die from heart or respiratory failure around age 20. There currently is no cure.

The platform developed by the UCLA researchers focuses on the hot spot of the dystrophin gene. They obtained skin cells from consenting patients who had mutations within the dystrophin gene hot spot. The scientists reprogrammed the cells to create induced pluripotent stem (iPS) cells. After they had produced iPS cells that were free from Duchenne mutations, they differentiated the iPS cells into cardiac-muscle and skeletal-muscle cells. Later, they transplanted the skeletal-muscle cells into mice that had a genetic mutation in the dystrophin gene.

The result was the largest deletion ever observed in the dystrophin gene using CRISPR/Cas9, and the study was the first to create corrected human iPS cells that could directly restore functional muscle tissue affected by Duchenne. The UCLA researchers plan to develop strategies to test the Duchenne-specific CRISPR/Cas9 platform to treat the disease in animals as the next step toward perfecting a method that can be used in humans.

“A Single CRISPR-Cas9 Deletion Strategy that Targets the Majority of DMD Patients Restores Dystrophin Function in hiPSC-Derived Muscle Cells,” Cell Stem Cell, April 7, 2016


Previous
Majority of California Adults Have Prediabetes or Diabetes
Next
A Key to Unlock Effective Personalized Medicine


YOU ARE VIEWING

Summer 2016

Summer 2016
E-Brochure
Printable PDF
IN THIS ISSUE
  • For the Public Good
  • Genetic Evolution of Zika Virus Unraveled
  • Exome Sequencing Improves Ability to Diagnose Neurogenetic Disorders
  • Impaired Stress Hormone before Pregnancy Predicts Lower-birthweight Babies
  • Surgery Better than Widely Used Medications to Treat Osteoporosis
  • Steps toward Potential Treatments for Central Nervous System Injury
  • Majority of California Adults Have Prediabetes or Diabetes
  • Promising New Approach to Treat Duchenne Muscular Dystrophy
  • A Key to Unlock Effective Personalized Medicine
  • PET Imaging Technology to Improve Cancer Treatment
  • Empathy for the Empathically Challenged
  • Glial Scarring Enhances Nerve-cell Regrowth
  • Helping U Help the Community: The Winners Are ...
  • Raising the Bar
  • Memories Are Made of This
  • Balms of Gilead
  • Dramatic Turn
  • Healthy Lifestyle, Healthy Memory
  • Awards & Honors
  • Reflection: Building a Legacy
  • In Her Own Words: Marie Crandall, MD ’96, MPH
  • Standing on the Shoulders of a Giant
  • UCLA Joins Parker Institute Collaboration to Advance Cancer Immunotherapy Research
  • UCLA Honors Longtime Benefactors with The UCLA Medal, Celebrates Inaugural Chair Holders
  • Gift from Arline and Henry Gluck to Pioneer Innovative Stroke Treatment
  • Taking on the Grand Challenge of Depression
  • Samuel Steinberg: Celebrating a Life of Compassion
  • Taste for a Cure: A Winning Event
  • UCLA Neurosurgery Celebrates Tom and Nadia Davies' Philanthropy and the Inaugural Davies Chair Holder
  • UCLA Helps Young People Develop Sound Bodies and Minds
  • New UCLA Operation Mend Program Treats the Hidden Wounds of War
  • An Afternoon of Good Food and Friends at Vibiana Raises Money for Scholarships
  • Fourth Annual Tour de Pier Fundraiser Tops $1 Million for Cancer Research and Services
  • Generous Philanthropy Launches UCLA Center to Support Emotionally Healthy Children
  • Gifts
  • Faculty Giving Back
  • In Memoriam
  • Family Support
Like Us on Facebook Follow Us on Twitter Subscribe to Our Videos on YouTube Follow us on Instagram Connect with Us on LinkedIn Follow us on Pinterest
UCLA Health hospitals ranked best hospitals by U.S. News & World Report
  • UCLA Health
  • Find a Doctor
  • School of Medicine
  • School of Nursing
  • UCLA Campus
  • Directory
  • Newsroom
  • Subscribe
  • Patient Stories
  • Giving
  • Careers
  • Volunteer
  • International Services
  • Privacy Practices
  • Nondiscrimination
  • Billing
  • Health Plans
  • Emergency
  • Report Broken Links
  • Terms of Use
  • 1-310-825-2631
  • Maps & Directions
  • Contact Us
  • Your Feedback
  • Report Misconduct
  • Get Social
  • Sitemap
Like Us on Facebook Follow Us on Twitter Subscribe to Our Videos on YouTube Follow us on Instagram Connect with Us on LinkedIn Follow us on Pinterest

Sign in to myUCLAhealth

Learn more about myUCLAhealth