Characteristics of VCP Mutation-Associated Cardiomyopathy

VCP disease is a rare, autosomal dominant disorder and includes combinations of hereditary Inclusion Body Myopathy (h-IBM), Paget's Disease of Bone (PDB), Frontotemporal Dementia (FTD) and amyotrophic lateral sclerosis (ALS). The disease is caused by mutations in the VCP gene located at 9p13 - p12 that encodes valosin-containing protein. VCP is a hexameric protein of the AAA (ATPases associated with diverse cellular activities) family that interacts with several cofactors and facilitates the degradation of polyubiquitylated substrates in the proteasome, endoplasmic reticulum or autophagy [1].

Source: Neuromuscular Disorders - June 12, 2021 Category: Neurology Authors: Stephani C. Wang, Charles D. Smith, Dawn M Lombardo, Virginia Kimonis Source Type: research