title: Skeletal Muscle MicroRNAs: Their Diagnostic and Therapeutic Potential in Human Muscle Diseases.
abstract: MicroRNAs (miRNAs) are small 21-24 nucleotide RNAs that are capable of regulating multiple signaling pathways across multiple tissues. MicroRNAs are dynamically regulated and change in expression levels during periods of early development, tissue regeneration, cancer, and various other disease states. Recently, microRNAs have been isolated from whole serum and muscle biopsies to identify unique diagnostic signatures for specific neuromuscular disease states. Functional studies of microRNAs in cell lines and animal models of neuromuscular diseases have elucidated their importance in contributing to neuromuscular disease progression and pathologies. The ability of microRNAs to alter the expression of an entire signaling pathway opens up their unique ability to be used as potential therapeutic entry points for the treatment of disease. Here, we will review the recent findings of key microRNAs and their dysregulation in various neuromuscular diseases. Additionally, we will highlight the current strategies being used to regulate the expression of key microRNAs as they have become important players in the clinical treatment of some of the neuromuscular diseases.
authors.affiliation: Division of Genetics and Genomics at Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics and Genetics at Harvard Medical School, Boston, MA, USA; The Stem Cell Program at Boston Children's Hospital, Boston, MA, USA.
authors.forename: Matthew S
authors.initials: MS
authors.lastname: Alexander
authors.affiliation: Division of Genetics and Genomics at Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics and Genetics at Harvard Medical School, Boston, MA, USA; The Stem Cell Program at Boston Children's Hospital, Boston, MA, USA; The Manton Center for Orphan Disease Research at Boston Children's Hospital, Boston, MA, USA; Harvard Stem Cell Institute, Cambridge, MA, USA.
authors.forename: Louis M
authors.initials: LM
authors.lastname: Kunkel
keywords: MicroRNA; biomarker; dystrophy; muscle disease; skeletal muscle; therapy