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Updated: Jul 23, 2025

Systemic Delivery of MicroRNA Using Recombinant Adeno-associated Virus Serotype 9 to Treat Neuromuscular Diseases in Rodents
Published on: August 10, 2018
Spinal and bulbar muscular atrophy: From molecular pathogenesis to pharmacological intervention targeting skeletal
Caterina Marchioretti1, Roberta Andreotti1, Emanuela Zuccaro1
1Department of Biomedical Sciences, University of Padova, Padova, Italy; Veneto Institute of Molecular Medicine (VIMM), Padova, Italy.
Abstract:
The clinical characteristics of SBMA, also known as Kennedy's disease (OMIM 313200), were initially documented by Dr. H Kawahara in the 18th century and a hundred years later by Dr. W. Kennedy. SBMA is a neuromuscular disease caused by expansions of a CAG microsatellite tandem repeat in exon 1 of the androgen receptor (AR) gene located on the X chromosome. These expansions result in the production of AR with an aberrantly expanded polyglutamine (polyQ) tract. In this review, we explore recent advancements in the significance of gene expression changes in skeletal muscle and discuss how pharmacological interventions targeting this aspect of disease pathogenesis can potentially be translated into therapies for SBMA patients.
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