Abstract：
:Spinal and bulbar muscular atrophy (SBMA) is a polyglutamine disease caused by the expansion of a CAG repeat in the androgen receptor (AR) gene. We generated a transgenic mouse model carrying a full-length AR containing 97 CAGs. Three of the five lines showed progressive muscular atrophy and weakness as well as diffuse nuclear staining and nuclear inclusions consisting of the mutant AR. These phenotypes were markedly pronounced in male transgenic mice, and dramatically rescued by castration. Female transgenic mice showed only a few manifestations that markedly deteriorated with testosterone administration. Nuclear translocation of the mutant AR by testosterone contributed to the phenotypic difference with gender and the effects of hormonal interventions. These results suggest the therapeutic potential of hormonal intervention for SBMA.
journal_name
Neuronjournal_title
Neuronauthors
Katsuno M,Adachi H,Kume A,Li M,Nakagomi Y,Niwa H,Sang C,Kobayashi Y,Doyu M,Sobue Gdoi
10.1016/s0896-6273(02)00834-6subject
Has Abstractpub_date
2002-08-29 00:00:00pages
843-54issue
5eissn
0896-6273issn
1097-4199pii
S0896627302008346journal_volume
35pub_type
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