Animals; Cell Movement (genetics); Cell Proliferation (genetics); Disease Models, Animal; Humans; Loss of Function Mutation; Membrane Proteins (deficiency, genetics); Mice; Mice, Knockout; Muscle Fibers, Skeletal (cytology, pathology); Muscular Diseases (genetics, pathology); Regeneration (genetics); Satellite Cells, Skeletal Muscle (pathology)
Biallelic loss-of-function MEGF10 mutations lead to MEGF10 myopathy, also known as early onset myopathy with areflexia, respiratory distress, and dysphagia (EMARDD). MEGF10 is expressed in muscle satellite cells, but the contribution of satellite cell dysfunction to MEGF10 myopathy is unclear. Myofibers and satellite cells were isolated and examined from Megf10 and wild-type mice. A separate set of mice underwent repeated intramuscular barium chloride injections. Megf10 muscle satellite cells showed reduced proliferation and migration, while Megf10 mouse skeletal muscles showed impaired regeneration. Megf10 deficiency is associated with impaired muscle regeneration, due in part to defects in satellite cell function. Efforts to rescue Megf10 deficiency will have therapeutic implications for MEGF10 myopathy and other inherited muscle diseases involving impaired muscle regeneration.
Digital Object Identifier (DOI)
FEBS open bio, Volume 11, Issue 1, 2021, pages 114-123.
© 2020 The Authors. FEBS Open Bio published by John Wiley & Sons Ltd on behalf of Federation of European Biochemical Societies.
This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
Li, C., Vargas‐Franco, D., Saha, M., Davis, R., Manko, K., & Draper, I. et al. (2020). Megf10 deficiency impairs skeletal muscle stem cell migration and muscle regeneration. FEBS Open Bio, 11(1), 114-123. https://doi.org/10.1002/2211-5463.13031