Mini-dystrophin protein (Mini-dystrophin)

Mini-dystrophin is a synthetic, truncated version of the dystrophin protein, engineered to fit within the packaging constraints of adeno-associated virus (AAV) vectors for gene therapy. In healthy individuals, full-length dystrophin serves as a vital structural bridge between the intracellular actin cytoskeleton and the extracellular matrix, protecting muscle fibers from mechanical stress during contraction (UniProt P11532). Patients with Duchenne muscular dystrophy (DMD) possess mutations in the DMD gene that prevent the production of functional dystrophin, leading to chronic muscle damage, inflammation, and progressive loss of mobility (NIH/GARD). Mini-dystrophin constructs retain the essential N-terminal and C-terminal domains required for membrane anchoring while removing non-essential internal spectrin-like repeats (PubMed 32435035). By introducing this shortened protein into muscle cells, gene therapies aim to restore sarcolemmal stability and mitigate the degenerative phenotype of DMD. Clinical development of mini-dystrophin therapies, such as delandistrogene moxeparvovec, represents a significant advancement in treating the underlying cause of dystrophinopathies (FDA Elevidys Approval).

Other names

Micro-dystrophinTruncated dystrophinDMD transgene productRecombinant dystrophin

Gene replacement therapy providing a functional truncated version of dystrophin to stabilize muscle cell membranes.