Like many genetic disorders, the mechanism that leads to the symptoms associated with different forms of muscular dystrophy is some level of dysfunction within a protein caused by a mutation in the gene that encodes for the associated protein. In the case of muscular dystrophy, the protein culprit is a structural muscle protein called dystrophin. Individuals afflicted with muscular dystrophy do not properly translate this protein and its absence leads to muscle necrosis through young adulthood in boys, almost always leading to a life expectancy below 30. There have been hundreds of confirmed mutations that lead to one of nine varieties of MD, and 1/3 of cases come from novel mutations that were previously unknown. This makes it an especially difficult disease to treat from a gene therapy standpoint as nailing down the precise genetic origin of the disease takes time and once isolated, a specialized approach is required to target each patient's individual case leading to an even larger time and financial investment.
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