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Androgen receptor and Kennedy disease/spinal bulbar muscular atrophy Monks DA; Rao P; Mo K; Johansen JA; Lewis G; Kemp MQHorm Behav 2008[May]; 53 (5): 729-40Kennedy 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.|Animals[MESH]|Humans[MESH]|Muscle, Skeletal/physiology[MESH]|Muscular Atrophy, Spinal/*pathology/physiopathology[MESH]|Neurons/physiology[MESH]|Receptors, Androgen/*physiology[MESH] |
