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Exon Skipping trials and carrier percentages of dystrophin

Just curious if any research has been done regarding exon skipping and carriers. I am a carrier and was told that I only produce up to 50% of dystophin of the average person. I'm sure this number flucuates from person to person, just curious to see what a functional percentage could be for our boys. I'm sure some carriers are less than 50%. I just hadn't heard if the researchers take that in to consideration. Maybe a far smaller percentage of dystrophin will be functional.

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Permalink Reply by lisa burke on May 5, 2010 at 4:32am

Hi,
From looking at some of the research into Becker cases, it seems that approx 30 - 40% dystrophin can result in 'mild symptoms'. However, symptoms will of course vary from individual to individual depending on a whole host of other genetic factors (as in Duchenne). It's also imprtant to remember that carriers and Becker cases will have had a percentage of dystrophin present from birth.

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Permalink Reply by Tina on May 5, 2010 at 5:48pm

Why don't you email Dr. Hoffman about this. He's the genetic researcher at CNMC in Washington, DC and specializes in exon skipping (he perfomed the dog studies). HIs email address is ericphoffman@gmail.com.