Deregulation of the ubiquitin-proteasome system is the predominant molecular pathology in OPMD animal models and patients.

ABSTRACT: Oculopharyngeal muscular dystrophy (OPMD) is a late-onset progressive muscle disorder caused by a poly-alanine expansion mutation in the Poly(A) Binding Protein Nuclear 1 (PABPN1). The molecular mechanisms that regulate disease onset and progression are largely unknown. In order to identify molecular pathways that are consistently associated with OPMD, we performed an integrated high-throughput transcriptome study in affected muscles of OPMD animal models and patients. The ubiquitin-proteasome system (UPS) was found to be the most consistently and significantly OPMD-deregulated pathway across species. We could correlate the association of the UPS OPMD-deregulated genes with stages of disease progression. The expression trend of a subset of these genes is age-associated and therefore, marks

SUBMITTER: Anvar SY 

PROVIDER: S-EPMC3156638 | biostudies-literature | 2011 Apr

REPOSITORIES: biostudies-literature