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Monroe Carell Jr. Children’s Hospital at Vanderbilt DMD Research Focus

Monroe Carell Jr. Children’s Hospital at Vanderbilt DMD Research Funding


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‘Molescular Scalpel’ Offers Hope in Muscular Dystrophy Fight

by Tom Henderson

A “molecular scalpel” could help children with Duchenne muscular dystrophy.

The gene for the protein dystrophin is damaged in people with the affliction, but the BBC in London reports a drug given to 19 children used a microscopic chemical “scalpel” to remove the damage and restore dystrophin production.

Leaders of Britain’s Muscular Dystrophy Campaign tell the BBC the new drug offers “real hope” for victims of Duchenne muscular dystrophy, which affects one in every 3,500 newborn boys.

The disease causes muscles to waste away rapidly through the victim’s life, confining many children to wheelchairs before their 10th birthdays. The condition can fatal before the age of 30.

The BBC reports the instructions for making a protein are in the genetic code. However, those instructions can get garbled. Scientists have used stem cell and gene therapy research to find ways to introduce a functional dystrophin gene.

In this latest study, researchers tried to do the best they could with the damaged code. Researchers at the Institute of Child Health at University College London injected tailored pieces of antisense RNA to remove a piece of the genetic code allowing it to be matched up either side of the mutation.

In the trial, seven out of the 19 children had some degree of dystrophin protein production restored.

“The best result was 20 percent of normal dystrophin levels,” lead researcher Francesco Muntoni tells the BBC. “That is quite remarkable considering the study was for 12 weeks.

“I’ve worked with patients with Duchenne muscular dystrophy for many years and this is the first time we can say with confidence that we’ve made a significant breakthrough towards finding a targeted treatment.”

However, he adds that the treatment was tailored to a specific mutation. It could not benefit everyone. He estimates only 13 percent of patients could be helped.

Nonetheless, Marita Pohlschmidt, director of the Muscular Dystrophy Campaign, tells the BBC the study is “quite a big deal.”

“If we can change severe symptoms in Duchenne into something milder, that would be fantastic,” she says. “We have fought to find a treatment for this devastating condition for the past 50 years. Today, we can say with real confidence that we’re going to win that battle. Parents of these boys can have real hope for the future.”

Exon Skipping

Exon skipping is currently one of the most promising therapeutic approaches for Duchenne muscular dystrophy (DMD). Using antisense oligonucleotides targeting specific exons the DMD reading frame is restored and partially functional dystrophins are produced.

Following proof of concept in cultured muscle cells from patients with various deletions and point mutations, we now focus on single and multiple exon duplications. These mutations are in principle ideal targets for this approach since the specific skipping of duplicated exons would generate original, full-length transcripts. 

As you will see in this powerpoint presentation the first slide will show the exons missing from 2 brothers (45 – 52)then the second slide will show the exon (53)that will have to be deleted in order to skip over to the necessary exons to conversate scientifically and make this work.