Payam Mohassel, Jachinta Rooney, Yaqun Zou, Kory Johnson, Gina Norato, Hailey Hearn, Matthew A Nalls, Pomi Yun, Tracy Ogata, Sarah Silverstein, David A Sleboda, Thomas J Roberts, Daniel B Rifkin, Carsten G Bönnemann
Collagen VI-related disorders ( COL6 -RDs) are a group of rare muscular dystrophies caused by pathogenic variants in collagen VI genes ( COL6A1, COL6A2, and COL6A3 ). Collagen type VI is a heterotrimeric, microfibrillar component of the muscle extracellular matrix (ECM), predominantly secreted by resident fibroadipogenic precursor cells in skeletal muscle. The absence or mislocalizatoion of collagen VI in the ECM underlies the non-cell autonomous dysfunction and dystrophic changes in skeletal muscle with an as of yet elusive direct mechanistic link between the ECM and myofiber dysfunction...
June 24, 2023: bioRxiv