title: Androgen receptor and Kennedy disease/spinal bulbar muscular atrophy.
abstract: Kennedy Disease/Spinal Bulbar Muscular Atrophy (KD/SBMA) is a progressive neurodegenerative disease caused by genetic polyglutamine expansion of the androgen receptor. We have recently found that overexpression of wildtype androgen receptor in skeletal muscle of transgenic mice results in a KD/SBMA phenotype. This surprising result challenges the orthodox view that KD/SBMA requires expression of polyglutamine expanded androgen receptor within motoneurons. Theories relating to the etiology of this disease drawn from studies of human patients, cellular and mouse models are considered with a special emphasis on potential myogenic contributions to as well as the molecular etiology of KD/SBMA.
authors.affiliation: Department of Psychology, University of Toronto at Mississauga, 3359 Mississauga Road, Mississauga, Ontario, Canada L5L 1C6. amonks@utm.utoronto.ca
authors.forename: Douglas Ashley
authors.initials: DA
authors.lastname: Monks
authors.forename: Pengcheng
authors.initials: P
authors.lastname: Rao
authors.forename: Kaiguo
authors.initials: K
authors.lastname: Mo
authors.forename: Jamie Ann
authors.initials: JA
authors.lastname: Johansen
authors.forename: Gareth
authors.initials: G
authors.lastname: Lewis
authors.forename: Michael Quentin
authors.initials: MQ
authors.lastname: Kemp
mesh_terms: D000818:Animals; D006801:Humans; D018482:Muscle, Skeletal / Q000502:physiology; D009134:Muscular Atrophy, Spinal / Q000473:pathology* / Q000503:physiopathology; D009474:Neurons / Q000502:physiology; D011944:Receptors, Androgen / Q000502:physiology*
chemical_list: D011944:Receptors, Androgen