A single genetic code mutation in a gene called dystrophin has been know for some time by researchers to cause the devastating disease known as Duchenne muscular dystrophy or DMD. The protein encoded by the dystrophin gene is absolutely critical for the structural integrity and biophysical properties of muscle and muscle fibers.
Biochemistry 101: DNA, which are the molecules that make up the genome that each of us inherit from our parents, are converted to a molecule called RNA. If DNA is thought of as the instruction manual of our being, you can think of RNA as a single sentence in the manual. RNA is then converted to protein and protein is the end product. Using the instruction manual analogy, the protein is like the carried out instruction – if the manual says join shelf A to shelf B using screw C, the protein is like screw C. If you have ever bought a piece of furniture from IKEA that requires assembly, then you know the analogy.
When the protein is produced from mutant dystrophin gene, the muscle is very easily damaged because it contains a mutation that weakens it. In early December, researchers at Stanford University reported new research on mice suggesting that the main problem with Duchenne is that damaged muscle cannot be replaced with healthy muscle cells fast enough. The findings of this study suggest that treatment of Duchenne muscular dystrophy should not only correct for deficient muscle fibers, but should also address the problems with replenishing the stem cell compartment that is failing in people with the disease.