title: In Vitro and In Vivo Modeling of Spinal and Bulbar Muscular Atrophy.
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.
authors.affiliation: Dulbecco Telethon Institute Lab of Neurodegenerative Diseases, Centre for Integrative Biology (CIBIO), University of Trento, Via Sommarive 9, 38123, Trento, Italy. MPennuto@Dti.Telethon.it.
authors.forename: Maria
authors.identifier: http://orcid.org/0000-0001-8634-0767
authors.initials: M
authors.lastname: Pennuto
authors.affiliation: Laboratory of Transcriptional Neurobiology, Centre for Integrative Biology (CIBIO), University of Trento, Via Sommarive 9, 38123, Trento, Italy. manuela.basso@unitn.it.
authors.forename: Manuela
authors.initials: M
authors.lastname: Basso
mesh_terms: D000818:Animals; D055534:Bulbo-Spinal Atrophy, X-Linked / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D004195:Disease Models, Animal; D005260:Female; D006801:Humans; D008297:Male; D010455:Peptides / Q000235:genetics; D061251:Primary Cell Culture / Q000379:methods; D011944:Receptors, Androgen / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion
chemical_list: D010455:Peptides; D011944:Receptors, Androgen; C097188:polyglutamine
keywords: Androgen receptor; Cell models; Knock-in mice; Mouse models; Muscle cells; Neuronal cells; Spinal and bulbar muscular atrophy; Transgenic mice