Biallelic mutations in multiple EGF domain protein 10 (MEGF10) gene cause EMARDD (early myopathy, areflexia, respiratory distress and dysphagia) in humans, a severe recessive myopathy, associated with reduced numbers of PAX7 positive satellite cells. To better understand the role of MEGF10 in satellite cells, we overexpressed human MEGF10 in mouse H-2kb-tsA58 myoblasts and found that it inhibited fusion. Addition of purified extracellular domains of human MEGF10, with (ECD) or without (EGF) the N-terminal EMI domain to H-2kb-tsA58 myoblasts, showed that the ECD was more effective at reducing myoblast adhesion and fusion by day 7 of differentiation, yet promoted adhesion of myoblasts to non-adhesive surfaces, highlighting the importance of the EMI domain in these behaviours. We additionally tested the role of Megf10 in vivo using transgenic mice with reduced (Megf10+/−) or no (Megf10−/−) Megf10. We found that the extensor digitorum longus muscle had fewer anti-Pax7 stained cell nuclei and was less able to undergo hypertrophy in response to muscle overload concomitant with a lower level of satellite cell activation. Taken together, our data suggest that MEGF10 may promote satellite cell adhesion and survival and prevent premature fusion helping to explain its role in EMARDD.

Journal of Muscle Research and Cell Motility -

A brief discussion about skeletal muscle, aberrant expression of dystrophin from null mutations of the gene, potential explanations as to why this occurs, and how understanding this could be useful for potential therapies in the future.

This review arises from the symposium held in honour of Prof Jenny Morgan at UCL in 2024 and the authors would like to acknowledge the outstanding contribution that Prof Morgan has made to the field of translational muscle cell biology. Prof Morgan published a review article in 2010 entitled: Are human and mice satellite cells really the same? In which the authors highlighted differences between species which are still pertinent to skeletal muscle cell culture studies today. To our knowledge there are no comprehensive reviews which outline the considerable work that has been undertaken using human primary skeletal muscle origin cells as the main model system. This review highlights the multitude of muscle biology that has been investigated using human primary cells, as well as discussing the advantages and disadvantages over other cell models. We also discuss future directions for primary cell culture models utilising the latest technologies in cell type specificity and culture systems.

The European Society for Muscle Research (ESMR) was founded in 1971, and the first EMC meeting was organized in 1972 in Liege (Belgium). Since then, annual ...

Smooth muscle cells perform vital functions in a range of organs including lungs, intestines, and blood vessels. The current research focus on the ...