Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:


Gene therapy for muscular dystrophy fixes frail muscle cells in animal model


A new gene therapy technique that has shown promise in skin disease and hemophilia might one day be useful for treating muscular dystrophy, according to a new study by researchers at Stanford University School of Medicine.

In the study, scheduled to be published online in the Proceedings of the National Academy of Sciences the week of Jan. 2, the researchers used gene therapy to introduce a healthy copy of the gene dystrophin into mice with a condition that mimics muscular dystrophy. The dystrophin gene is mutated and as a result produces a defective protein in the roughly 20,000 people in the United States with the most common form of the disease.

Using gene therapy to treat muscular dystrophy isn’t a new idea. Thomas Rando, MD, PhD, associate professor of neurology and neurological sciences, said that researchers have tried several different techniques with variable success. One hurdle is getting genes into muscle cells all over the body. Another is convincing those cells to permanently produce the therapeutic protein made by those genes.

The gene therapy technique Rando and postdoctoral fellow Carmen Bertoni, PhD, used was developed by Michele Calos, PhD, associate professor of genetics. One of the main advantages of this method is that it could potentially provide a long-term fix for a variety of genetic diseases, including muscular dystrophy.

In muscular dystrophy, the muscle cells break down and are slowly replaced by fat. Eventually people with the disease are confined to a wheelchair and usually die in their 20s. There is currently no effective treatment for the disease, which explains why gene therapy remains a hope despite the significant hurdles.

Rando said the PNAS paper highlights an additional requirement for any gene therapy to be successful: the introduced gene must produce healthy dystrophin protein in large quantities in order to repair the entire muscle cell. Previous muscular dystrophy gene therapy studies did not look at whether the introduced dystrophin spread along the entire length of the muscle cell, which can be many millimeters long in mice or inches long in humans.

In the upcoming paper Bertoni used a standard gene therapy method to introduce two genes - dystrophin and a gene that makes a glowing protein - into mice with a mouse version of muscular dystrophy. She found that in mice producing insufficient dystrophin, she could see the glowing protein slowly leak out of the cell. This leakiness is a sign that the cell is not healed. In contrast, when she used Calos’ gene therapy technique to introduce the genes, the muscle cell contained high levels of dystrophin distributed along the length of the cell and the glowing protein stayed within the cell, suggesting that the abundant dystrophin repaired the ailing muscle.

"If you have a single cell that’s a foot long and you only correct a few inches, you’ve done very little," Rando said, "Whereas if you correct it from end to end, you truly cure the disease in that cell."

Both Rando and Calos point out that the road to a gene therapy cure for muscular dystrophy is still a long one. However, Calos is confident that her technique will be a part of the journey towards a cure for the disease and for other diseases such as hemophilia and the skin disease, epidermolysis bullosa. Early trials using her approach have looked promising in animal models of both of these diseases.

"I think our approach has a lot of potential to overcome issues that have slowed the field of gene therapy," Calos said.

Calos said her approach has two advantages: one is that in her method the gene gets inserted directly into the cell’s own DNA, which is why the correction is permanent. In some other methods the gene stays outside the DNA and slowly breaks down. The second advantage is that her method doesn’t rely on a virus to disperse the DNA and therefore avoids some of the issues, including cancer and an immune reaction, that have turned up in viral gene therapy trials. Instead this approach uses naked DNA that travels through the bloodstream to cells of the body.

For his part, Rando said that no matter how well gene therapy works in an isolated muscle, researchers still must figure out how to get that gene to muscles throughout the body. Despite the remaining hurdles, both Rando and Calos said that their study is a step towards eventually treating muscular dystrophy and other diseases using gene therapy.

Amy Adams | EurekAlert!
Further information:

More articles from Life Sciences:

nachricht Gene therapy shows promise for treating Niemann-Pick disease type C1
27.10.2016 | NIH/National Human Genome Research Institute

nachricht 'Neighbor maps' reveal the genome's 3-D shape
27.10.2016 | International School of Advanced Studies (SISSA)

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Etching Microstructures with Lasers

Ultrafast lasers have introduced new possibilities in engraving ultrafine structures, and scientists are now also investigating how to use them to etch microstructures into thin glass. There are possible applications in analytics (lab on a chip) and especially in electronics and the consumer sector, where great interest has been shown.

This new method was born of a surprising phenomenon: irradiating glass in a particular way with an ultrafast laser has the effect of making the glass up to a...

Im Focus: Light-driven atomic rotations excite magnetic waves

Terahertz excitation of selected crystal vibrations leads to an effective magnetic field that drives coherent spin motion

Controlling functional properties by light is one of the grand goals in modern condensed matter physics and materials science. A new study now demonstrates how...

Im Focus: New 3-D wiring technique brings scalable quantum computers closer to reality

Researchers from the Institute for Quantum Computing (IQC) at the University of Waterloo led the development of a new extensible wiring technique capable of controlling superconducting quantum bits, representing a significant step towards to the realization of a scalable quantum computer.

"The quantum socket is a wiring method that uses three-dimensional wires based on spring-loaded pins to address individual qubits," said Jeremy Béjanin, a PhD...

Im Focus: Scientists develop a semiconductor nanocomposite material that moves in response to light

In a paper in Scientific Reports, a research team at Worcester Polytechnic Institute describes a novel light-activated phenomenon that could become the basis for applications as diverse as microscopic robotic grippers and more efficient solar cells.

A research team at Worcester Polytechnic Institute (WPI) has developed a revolutionary, light-activated semiconductor nanocomposite material that can be used...

Im Focus: Diamonds aren't forever: Sandia, Harvard team create first quantum computer bridge

By forcefully embedding two silicon atoms in a diamond matrix, Sandia researchers have demonstrated for the first time on a single chip all the components needed to create a quantum bridge to link quantum computers together.

"People have already built small quantum computers," says Sandia researcher Ryan Camacho. "Maybe the first useful one won't be a single giant quantum computer...

All Focus news of the innovation-report >>>



Event News

#IC2S2: When Social Science meets Computer Science - GESIS will host the IC2S2 conference 2017

14.10.2016 | Event News

Agricultural Trade Developments and Potentials in Central Asia and the South Caucasus

14.10.2016 | Event News

World Health Summit – Day Three: A Call to Action

12.10.2016 | Event News

Latest News

How nanoscience will improve our health and lives in the coming years

27.10.2016 | Materials Sciences

OU-led team discovers rare, newborn tri-star system using ALMA

27.10.2016 | Physics and Astronomy

'Neighbor maps' reveal the genome's 3-D shape

27.10.2016 | Life Sciences

More VideoLinks >>>