2008 Woodie Awards
Video related to this article is available below.Issue date: 3/7/08 Section: News
MD researchers muscle in on more targeted treatments
Julia Harte
For years, scientists have been devising ways to treat Duchenne muscular dystrophy - the most common and serious form of the disease - without actually replacing the mutated gene that causes it. That approach may soon pay off, as researchers start testing the most promising of such techniques.
H. Lee Sweeney, a researcher and professor at Penn's School of Medicine is among a "probable majority" of researchers who have shifted their focus from gene therapy to treatments that override the effects of specific mutations.
Duchenne victims, nearly all male children, have a mutated version of the gene for the muscle protein dystrophin, usually a version that lacks "coding" regions, where instructions for protein production are contained. As a result, they can't repair muscle damage from everyday exertions like climbing stairs.
Sweeney noted that "the real mindshift among scientists probably took place around a decade ago … it's just now that they're actually trying these out on patients."
Several prominent mutation-specific treatments are currently in or nearing clinical trials.
In connection with the pharmaceutical company PTC Therapeutics, Sweeney has been developing a drug that will induce ribosomes to continue producing dystrophin even when a gene with a "nonsense" mutation tells them to stop prematurely.
Based on mouse trials, Sweeney speculated that the drug could halt the disease in young victims of the mutation -- 15 percent of Duchenne patients -- and stabilize it in older ones. But even then, they would only be able to lead a "relatively sedentary life; they wouldn't be able to go out and run very much," he said.
Dutch researcher Judith van Deutekom said her team is developing a drug that aims to "delay or even stop progression of the disease, but hopefully also improve muscle function" by creating a smaller but functional gene out of the 70 percent of Duchenne genes that lack coding regions.
After the 1986 discovery of the gene responsible for Duchenne, researchers first tried to use gene therapy - replacing the defective coding regions of the gene with healthy ones - but had trouble effectively inserting those replacements into muscle tissue.
H. Lee Sweeney, a researcher and professor at Penn's School of Medicine is among a "probable majority" of researchers who have shifted their focus from gene therapy to treatments that override the effects of specific mutations.
Duchenne victims, nearly all male children, have a mutated version of the gene for the muscle protein dystrophin, usually a version that lacks "coding" regions, where instructions for protein production are contained. As a result, they can't repair muscle damage from everyday exertions like climbing stairs.
Sweeney noted that "the real mindshift among scientists probably took place around a decade ago … it's just now that they're actually trying these out on patients."
Several prominent mutation-specific treatments are currently in or nearing clinical trials.
In connection with the pharmaceutical company PTC Therapeutics, Sweeney has been developing a drug that will induce ribosomes to continue producing dystrophin even when a gene with a "nonsense" mutation tells them to stop prematurely.
Based on mouse trials, Sweeney speculated that the drug could halt the disease in young victims of the mutation -- 15 percent of Duchenne patients -- and stabilize it in older ones. But even then, they would only be able to lead a "relatively sedentary life; they wouldn't be able to go out and run very much," he said.
Dutch researcher Judith van Deutekom said her team is developing a drug that aims to "delay or even stop progression of the disease, but hopefully also improve muscle function" by creating a smaller but functional gene out of the 70 percent of Duchenne genes that lack coding regions.
After the 1986 discovery of the gene responsible for Duchenne, researchers first tried to use gene therapy - replacing the defective coding regions of the gene with healthy ones - but had trouble effectively inserting those replacements into muscle tissue.
Viewing Comments 1 - 2 of 2
Navleen
posted 3/07/08 @ 8:33 AM EST
My son who is 6 and a half years old right now, has been diagnosed with DMD as he has duplication of Exon 2 only. He is doing well otherwise and goes to school. (Continued…)
.
posted 3/07/08 @ 12:22 PM EST
Next time, get someone from Penn Med (a graduate student or a medical student) to proof read an article like this for correctness before printing.
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