Mitochondrial Dysfunction and Apoptosis Underlie the Pathogenic Process in Alpha-B-Crystallin Desmin Related Cardiomyopathy

摘要

BackgroundMitochondria and sarcomeres have a well-defined architectural relationship that partially depends upon the integrity of the cytoskeletal network. An R120G missense mutation in the small heat shock protein alpha-B-crystallin (CryAB) causes desmin-related cardiomyopathy (DRM). DRM is characterized by the formation of intracellular aggregates containing CryAB and desmin that are amyloid positive, and disease can be recapitulated in transgenic mice by cardiac-specific expression of the mutant protein.