Abstract
Spinal and bulbar muscular atrophy (SBMA) is an X-linked neuromuscular disease characterized by late-onset, progressive degeneration of lower motor neurons and skeletal muscle atrophy. SBMA is caused by expansions of a CAG trinucleotide repeat in the gene encoding the androgen receptor (AR). One striking feature of SBMA is sex specificity: SBMA fully manifests only in males, whereas females show subclinical or mild disease manifestations even when homozygous for the mutation. Since the identification of the mutation responsible for SBMA in 1991, several cell and animal models have been developed to recapitulate the main features of disease in vitro and in vivo. In this review, we describe the most widely used cellular and animal models of SBMA, highlighting advantages and disadvantages in the use of these models to gain mechanistic and therapeutic insights into SBMA.
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Acknowledgments
This work was supported by the Telethon-Italy and Provincia Autonoma di Trento (TCP12013 to M.P.), the Italian Ministry of Health (RF-2011-02350097 to M.P.), the French Muscular Dystrophy Association (18722 to M.P.), the Associazione Alzheimer Trento Onlus (to M.B.), the Bando Progetti Strategici di Ateneo-University of Trento (to M.P. and M.B.), and CIBIO internal funds.
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Animal care and experimental procedures were conducted in accordance with the University of Trento ethical committee and were approved by the Italian Ministry of Health.
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Pennuto, M., Basso, M. In Vitro and In Vivo Modeling of Spinal and Bulbar Muscular Atrophy. J Mol Neurosci 58, 365–373 (2016). https://doi.org/10.1007/s12031-015-0677-4
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DOI: https://doi.org/10.1007/s12031-015-0677-4