N-acetyl-L-cysteine prevents stress-induced desmin aggregation in cellular models of desminopathy.

ABSTRACT: Mutations within the human desmin gene are responsible for a subcategory of myofibrillar myopathies called desminopathies. However, a single inherited mutation can produce different phenotypes within a family, suggesting that environmental factors influence disease states. Although several mouse models have been used to investigate organ-specific desminopathies, a more general mechanistic perspective is required to advance our knowledge toward patient treatment. To improve our understanding of disease pathology, we have developed cellular models to observe desmin behaviour in early stages of disease pathology, e.g., upon formation of cytoplasmic desmin aggregates, within an isogenic background. We cloned the wildtype and three mutant desmin cDNAs using a Tet-On Advanced® expression system

SUBMITTER: Segard BD 

PROVIDER: S-EPMC3788106 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature