Abstract
Collagen VI-related dystrophies (COL6-RDs) are a group of frequently severe, congenital-onset muscular dystrophies for which there is no effective treatment. Dominant-negative mutations, in particular glycine substitutions and in-frame exon skips, are common in COL6A1, COL6A2 and COL6A3 genes, and they are capable of incorporating into the hierarchical assembly of the encoded collagen a1, a2 and a3 (VI) chains and as a consequence, produce a dysfunctional collagen VI extracellular matrix. RNA therapeutics offer great opportunities to silence dominant-negative mutations if designed to selectively target the mutant allele, as haploinsufficiency for the COL6 genes is not associated with clinical disease.
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