C. Weihl, J. Bieschke September 11, 2017

Protein aggregate myopathies (PAMs) are a large class of myodegenerative diseases. Their pathologies are due to the misfolding and aggregation of intracellular proteins in muscle cells. In some cases, these inclusions stain with Congo Red suggesting they are true amyloid. Desminopathies are a prototypical PAM that is caused by dominantly inherited mutations of the DES gene, which codes for the protein desmin. Healthy desmin forms type III intermediate filaments in muscle fibers; whereas desmin disease mutations affect intermediate filament structure by interfering with intermediate filament assembly.


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