GSE108590
Characterization of the deregulation of the RNAs associated to the RISC complex in skeletal muscle of DM1 patients (RISC-IP small RNA)
DM1 (OMIM #160900) is a chronic, slowly progressing multisystemic disease, with symptoms that include loss of muscle strength, myotonia and excessive fatigue. DM1 is caused by a dynamic expansion of CTG repeats, ranging from 50 to several thousands, in the 3' untranslated region of the DMPK gene. Characteristic molecular features of the disease have been associated with a toxic RNA gain of function of the CUG expansions. Expanded CUG repeats have been demonstrated to be toxic per se in several cell types and animal models disrupting gene transcription and pre-mRNA alternative splicing. Deep sequencing is here used to characterize the deregulation of the RNAs associated to the RISC complex in the skeletal muscle of DM1 patients. Overall design: 2 conditions are available, Control and DM1. Each condition is represented by three samples from individual patients for a total of 6 samples. The samples contain small RNA-Seq data obtained by deep sequencing of the RNA enriched by immunoprecipitating the RISC complex.