A research team has succeeded in re-expressing normal collagen VI in cellular models of collagen VI-related myopathy.
Abnormalities in one of the COL6 genes, COL6A1, COL6A2 or COL6A3 are at the origin of myopathies such as Ullrich congenital muscular dystrophy and Bethlem myopathy. These abnormalities lead to the absence or abnormal production of collagen VI, one of the main constituents of connective tissue that surrounds muscle fibers (extracellular matrix) to support and protect them. In myopathies related to collagen VI deficiency, abnormal collagen VI chains associate with normal collagen VI chains, preventing them from being secreted; they are retained in the cell and are not integrated into the extracellular matrix.
A British team has identified a class of antisense oligonucleotides (gapmers) that, by targeting an abnormality in the gene encoding collagen VI, prevents the expression of abnormal collagen VI. In cellular models, these gapmers allow to reduce the retention of normal collagen VI in cells and thus increase its incorporation into the extracellular matrix.
