Megf10 deficiency impairs skeletal muscle stem cell migration and muscle regeneration. Issue 1 (26th November 2020)

• Record Type: Journal Article
• Authors: Li, Chengcheng; Vargas‐Franco, Dorianmarie; Saha, Madhurima; Davis, Rachel M.; Manko, Kelsey A.; Draper, Isabelle; Pacak, Christina A.; Kang, Peter B.
• Is Part Of: FEBS open bio. Volume 11:Issue 1(2021)
• Page Start: 114
• Page End: 123
• Publication Date: 2020-11-26
• Subjects: MEGF10 myopathy -- satellite cells -- skeletal muscle regeneration; Molecular biology -- Periodicals; Cytology -- Periodicals; Life sciences -- Periodicals; Biological Science Disciplines -- Periodicals; Molecular Biology -- Periodicals; Cell Biology -- Periodicals; Cytology; Life sciences; Molecular biology; Periodicals; 572.805
• DOI: 10.1002/2211-5463.13031
• Languages: English
• ISSNs: 2211-5463

Abstract

Abstract : 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. Abstract : The exact disease mechanism of MEGF10 deficiency, which causes a rare inherited myopathy, remains unknown. In mice, Megf10 deficiency is associated with slower proliferation and migration of satellite cells, as well as impaired skeletal muscle regeneration after skeletal muscle injury experiments. These studies demonstrate that Megf10 makes important contributions to the function of satellite cells in muscle regeneration.