Duchenne muscular dystrophy (DMD), the most common form of all muscular dystrophies, is an X-linked disorder affecting approximately one in 5000 newborn boys. "(page1; paragraph 1; lines 1-4)" Patients are usually restricted to a wheelchair around the age of twelve and facing death somewhere between the ages twenty-five to thirty. DMD is caused when the dystrophin gene is mutated. That mutation stops the communication for a functional protein. The inadequacy of dystrophin causes muscle fiber degeneration, fibrosis, inflammation, all which is externalized as muscle weakness.
Ideally, instating feasible dystrophin through genetic-based procedures would be the way to go, but gene therapies haven't been successful. Researchers tried replacing the gene that copies Becker's Muscle Dystrophy phenotype using adeno-associated virus vector. That was unsuccessful because the proteins produced a reaction from the immune system causing T cell-mediated cytotoxicity, against both the protein and the vector. Researchers also tried to suppress what they called a nonsense mutation. With this mutation the stop codon is placed too soon, stopping the dystrophin protein from being made. This method also failed. …show more content…
"(page2 paragraph1; lines 1-3)" The FDA determined that this was not a successful method after short-term and long-term trials were ran and neither yielded favorable results. The second trial consisted of twelve patients. Four which were on IV infusions of 30mg/kg, four on IV infusions if 50mg/kg and four who received placebo. The infusions included Eteplirsen, which after just one injection had increased dystrophin protein expressions. There was a significant increase in dystrophin positive fibers in this study. It showed a seventy-five-meter
Ideally, instating feasible dystrophin through genetic-based procedures would be the way to go, but gene therapies haven't been successful. Researchers tried replacing the gene that copies Becker's Muscle Dystrophy phenotype using adeno-associated virus vector. That was unsuccessful because the proteins produced a reaction from the immune system causing T cell-mediated cytotoxicity, against both the protein and the vector. Researchers also tried to suppress what they called a nonsense mutation. With this mutation the stop codon is placed too soon, stopping the dystrophin protein from being made. This method also failed. …show more content…
"(page2 paragraph1; lines 1-3)" The FDA determined that this was not a successful method after short-term and long-term trials were ran and neither yielded favorable results. The second trial consisted of twelve patients. Four which were on IV infusions of 30mg/kg, four on IV infusions if 50mg/kg and four who received placebo. The infusions included Eteplirsen, which after just one injection had increased dystrophin protein expressions. There was a significant increase in dystrophin positive fibers in this study. It showed a seventy-five-meter