Cleavage, aggregation and toxicity of the expanded androgen receptor in spinal and bulbar muscular atrophy |
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| Authors: | Merry, DE Kobayashi, Y Bailey, CK Taye, AA Fischbeck, KH |
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| Affiliation: | Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA. merryd@mail.med.upenn.edu |
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| Abstract: | Spinal and bulbar muscular atrophy (SBMA) is a neurodegenerative diseasecaused by the expansion of a polyglutamine repeat within the androgenreceptor (AR). We have studied the mutant AR in an in vitro system, andfind both aggregation and proteolytic processing of the AR protein to occurin a polyglutamine repeat length-dependent manner. In addition, we find theaberrant metabolism of expanded repeat AR to be coupled to cellulartoxicity, indicating a likely molecular basis for the toxic gain of ARfunction that produces neuronal degeneration in SBMA. |
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