What type of mutation is associated with Duchenne Muscular Dystrophy (DMD)?

Duchenne Muscular Dystrophy (DMD) is primarily associated with frameshift mutations. These mutations occur when there is an insertion or deletion of nucleotides in the DNA sequence that is not a multiple of three. This results in a shift of the reading frame during protein synthesis, leading to the production of a completely different and often nonfunctional protein. In DMD, this effects the dystrophin gene, which plays a crucial role in muscle cell integrity.

The consequences of frameshift mutations are particularly pronounced in conditions like DMD, as they typically lead to an early stop codon, truncating the protein and preventing the production of functional dystrophin. This disrupted protein is responsible for stabilizing muscle cell membranes during contraction, and without it, muscle cells become damaged over time, resulting in the clinical manifestations of the disease.

Other types of mutations, such as missense, nonsense, or inversion mutations, may play roles in other genetic disorders, but frameshift mutations are particularly significant in the context of DMD due to their effect on the dystrophin protein and the severity of muscle degeneration associated with this condition.