István Reinhardt emailed me a link to a recent Kennedy’s Disease (SBMA) study. The video is also interesting. Clink on the link below to go to the site or download a PDF copy of the study with this link: https://www.jove.com/pdf/55724
Systemic Delivery of MicroRNA Using Recombinant Adeno-associated Virus Serotype 9 toTreat Neuromuscular Diseases in Rodents
RNA interference via the endogenous miRNA pathway regulates gene expression by controlling protein synthesis through post-transcriptional gene silencing. In recent years, miRNA-mediated gene regulation has shown potential for treatment of neurological disorders caused by a toxic gain of function mechanism. However, efficient delivery to target tissues has limited its application. Here we used a transgenic mouse model for spinal and bulbar muscular atrophy (SBMA), a neuromuscular disease caused by polyglutamine expansion in the androgen receptor (AR), to test gene silencing by a newly identified AR-targeting miRNA, miR-298. We overexpressed miR-298 using a recombinant adeno-associated virus (rAAV) serotype 9 vector to facilitate transduction of non-dividing cells. A single tail-vein injection in SBMA mice induced sustained and widespread overexpression of miR-298 in skeletal muscle and motor neurons and resulted in amelioration of the neuromuscular phenotype in the mice.
In a 2011 post, Ed Meyerthoen explained the defective AR gene. You can read his post by following this link: https://kennedysdisease.blogspot.com/2011/05/what-is-ar-and-why-is-it-important.html