Skeletal and Cardiac Muscle Disorders Caused by Mutations in Genes Encoding Intermediate Filament Proteins.

Maggi L, Mavroidis M, Psarras S, Capetanaki Y, Lattanzi G.

Int J Mol Sci. 2021 Apr 20;22(8):4256. doi: 10.3390/ijms22084256

This review will summarize clinical and molecular aspects of desmin-, lamin- and synemin-related striated muscle disorders with focus on LMNA and DES-associated clinical entities and will suggest pathogenetic hypotheses based on the interplay of desmin and lamin A/C. In healthy muscle, such interplay is responsible for the involvement of this network in mechanosignaling, nuclear positioning and mitochondrial homeostasis, while in disease it is disturbed, leading to myocyte death and activation of inflammation and the associated secretome alterations.

 

medline link: https://pubmed.ncbi.nlm.nih.gov/33923914/