In Vitro and In Vivo Modeling of Spinal and Bulbar Muscular Atrophy.
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.
['Pennuto|Maria|M|http://orcid.org/0000-0001-8634-0767', 'Basso|Manuela|M|']
D000818:Animals D055534:Bulbo-Spinal Atrophy, X-Linked D004195:Disease Models, Animal D005260:Female D006801:Humans D008297:Male D010455:Peptides D061251:Primary Cell Culture D011944:Receptors, Androgen D019680:Trinucleotide Repeat Expansion
Spinal and bulbar muscular atrophy Androgen receptor Cell models Knock-in mice Mouse models Muscle cells Neuronal cells Transgenic mice