Collagen Type VI, which includes the alpha 1 chain encoded by the COL6A1 gene, is an extracellular matrix protein that plays a crucial role in maintaining the integrity and function of muscles and skin. It is a microfibrillar protein that forms a complex with other collagen types, particularly Type I collagen, to provide structural support and tensile strength to connective tissues. The COL6A1 gene is responsible for encoding the alpha 1 chain of collagen VI, and mutations in this gene can lead to a spectrum of muscular disorders known as collagen VI-related myopathies, such as Ullrich congenital muscular dystrophy and Bethlem myopathy. These conditions are characterized by muscle weakness and stiffness, and in some cases, additional symptoms like joint contractures and skin abnormalities. Research has also implicated collagen VI in various pathological processes beyond myopathies. For instance, it has been suggested that COL6A1 may play a role in the progression of certain cancers, including osteosarcoma, by promoting cell migration and invasion3. Additionally, alterations in COL6A1 expression have been associated with tumorigenesis and angiogenesis in glioblastoma multiforme.
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