Facioscapulohumeral muscular dystrophy as a model for epigenetic regulation and disease.

ABSTRACT:

Significance

Aberrant epigenetic regulation is an integral aspect of many diseases and complex disorders. Facioscapulohumeral muscular dystrophy (FSHD), a progressive myopathy that afflicts individuals of all ages, is caused by disrupted genetic and epigenetic regulation of a macrosatellite repeat. FSHD provides a powerful model to investigate disease-relevant epigenetic modifiers and general mechanisms of epigenetic regulation that govern gene expression.

Recent advances

In the context of a genetically permissive allele, the one aspect of FSHD that is consistent across all known cases is the aberrant epigenetic state of the disease locus. In addition, certain mutations in the chromatin regulator SMCHD1 (structural maintenance of chromosomes hinge-domain protein 1) are suffi

SUBMITTER: Himeda CL 

PROVIDER: S-EPMC4432493 | biostudies-literature | 2015 Jun

REPOSITORIES: biostudies-literature