Collagen related muscle diseases

Collagen VI is an extracellular matrix protein. A common recurrent dominant-negative deep intronic C>T mutation in the COL6A1 gene inserts a 72-nucleotide-long pseudoexon between exons 11 and 12 in 50% of the pathogenic variant's allele transcripts. This mutation causes Ullrich congenital muscular dystrophy with early-onset muscle weakness, joint contractures, and respiratory insufficiency. Using CRISPR/Cas9 technology, we have generated a humanized knock-in mouse model carrying either the human wild type (HumC) or mutant (HumT) alleles to investigate this variant's pathophysiology and to test splice-correction therapies in vivo.

Source: Neuromuscular Disorders - September 19, 2021 Category: Neurology Authors: F. Guirguis, V. Bolduc, J. Cheng, L. Garrett, C. B önnemann Source Type: research