Before writing I thought a lot about how I would like to present what I’m about to say. My brain hovered between scientific information, layman’s terms and comparisons between Duchenne MD and the type that I live with. (Limb-Girdle 2e). Well, what the hell, let’s do a bit of everything for those of you who think like I do (all over the place).
Why IS THIS TODAY?
Remember sitting in high school bio or anatomy class and not really paying attention? Me too. You saw a muscle chart, had to memorize names (Deltoid…point up at the sky like you’re looking at a Delta plane. The muscle in the back of your shoulder is the deltoid…you’re welcome). Anyway, all of our muscles make proteins as we go about the day. The proteins are made up of tons of letter codes (A, G, C, T) which you also vaguely remember as DNA. (Jurassic Park??) WELL…in our muscles, the area where the protein shows up is called an EXON. (not the gas, that’s Exxon). In Duchenne Muscular Dystrophy, the protein that’s missing is called “dystrophin.” The gene for dystrophin is one of the largest yet discovered in our bodies, containing 79 exons. (See the featured photo for how they go together…and of course, this is all microscopic). SO, short story long….today is September 7. 7th day of the 9th month for 79 exons in the dystrophin gene. As our bodies produce and code proteins, in Duchenne exons are missing totally, (deleted) or sometimes show up more than once (duplicated). You would think the more exons missing, the more serious the disease, but this is not always true. The “hot spot” in may individuals with DMD is missing exon 51 and so science has come up with a way to “skip” exon 51 in an attempt to allow the body to gloss over the missing DNA chunk and make some dystrophin. There are several ongoing human trials as well as a couple of approved medicines out there that seem to help, but right now it is impossible to grow back muscle that already has been replaced by fat tissue, so the hope is to slow or even stop the progression of the condition. It’s exciting stuff and it’s promising hope for all of with every type of MD.
If your brain is not spinning yet, check out this photo:
Muscle 
You are looking at various proteins that are made in your muscle cells. ALL of the long words are proteins that help bind your muscle cells together so they don’t break apart and fail. You can see that DYSTROPHIN is a player in holding things together, and when it’s not there, the muscle cannot function properly. In my case, called Limb-Girdle, the SARCOGLYCAN COMPLEX is messed up, but my dystrophin is fine. These little light purple guys also serve to hold things together. Specifically, in my type of Limb-Girdle, the beta-sarcoglycan is not being made properly. Do you know your Greek letters? Beta is second light purple from the right. YES. That little tiny oval has caused me a lot of problems throughout my life. Can part of my genetic coding also be “skipped” over? I had my gene sequenced (not as expensive as you would think…it’s a few hundred bucks to do a specific gene) and learned that I have about 32 letters missing in exon 5 as well as 4 duplicate letters just before exon 1. There is a very smart doc. that I know in Ohio named Jerry Mendell who is working on my exact form of Limb-Girdle, which is even more rare than having Duchenne. Time will tell. You now understand this on a microscopic level and even pinpointing where all of these proteins live and work is an unbelievable feat of science. Start googling your favorite terms in this blog and watch your head spin. Perhaps YOU will notice something that science hasn’t thought of, or perhaps it will just make you think: wow, our bodies are a wonderland.
Today is World Duchenne Awareness Day. Now you are aware. Thanks for sticking it out to the end…..because…yeah…science.
Stay safe, stay awesome and stay tuned.
Patrick moeschen 