Dystroglycanin

Dystroglycan is a complex of two transmembrane glycoproteins, alpha-dystroglycan and beta-dystroglycan, that plays a crucial role in the integrity and organization of the extracellular matrix in muscle and non-muscle tissues. It is a key component of the dystrophin-glycoprotein complex, which helps to maintain the stability and structural integrity of muscle cells.

Alpha-dystroglycan is the extracellular domain of the complex, while beta-dystroglycan spans the plasma membrane. The binding of alpha-dystroglycan to the extracellular matrix component laminin is mediated by the beta-subunit. The dystroglycan complex is thought to function as a molecular link between the cytoskeleton and the extracellular matrix, and is involved in the maintenance of muscle cell integrity and the transmission of force across the muscle cell membrane.

Mutations in the genes encoding autoantigen 345 and beta-dystroglycan have been associated with a range of muscular dystrophies, including muscle cell migration and formation disorders. The association of these mutations with the clinical features of muscular dystrophy underscores the importance of the dystroglycan complex in the maintenance of muscle cell structure and function.

Research has shown that the dystroglycan complex is also involved in the development and maintenance of the brain and the spinal cord. In the central nervous system, the dystroglycan complex is implicated in the regulation of synaptic plasticity and the prevention of excitotoxicity. Further work is needed to fully elucidate the function and pathogenic mechanisms of the dystroglycan complex in the central nervous system.

Overall, the dystroglycan complex plays a critical role in maintaining the structural and functional integrity of various tissue types, and disruptions to this complex are associated with a range of muscle and neurological disorders.