title: Mitochondrial dysfunction in Kennedy's disease: a new pharmacological target?
abstract: BACKGROUND
  Mitochondrial impairment and elevated oxidative stress have been implicated in the pathogenesis of Kennedy's disease. However, there is still no study describing the mitochondrial nutrient management in patients with Kennedy's disease.
  
  
  METHODS
  We assessed the clinical and electrophysiological features in a patient with Kennedy's disease. This patient was diagnosed by genetic analysis. We also measured the plasma 8-hydroxydeoxyguanosine (8-OHdG) levels of the patient and his family members using commercial enzyme-linked immunosorbent assay (ELISA). Treatment with intravenous L-carnitine (2 g/day) for the patient was started on admission, followed by two weeks.
  
  
  RESULTS
  Routine laboratory tests revealed a severe elevation of creatine kinase (CK) (606.5 U/L; normal value: 15-170 U/L). Sequencing of the first exon of androgen receptor (AR) revealed an increased number of CAG repeat (50; the normal range from 10-36) in the patient. Plasma 8-OHdG level in the patient was relatively elevated (34.68±1.01 ng/mL) compared with the female carriers and non-carriers. Two weeks after L-carnitine treatment, we observed a reduction of approximately 40% in CK level (391 U/L) in the patient.
  
  
  CONCLUSIONS
  Oxidative stress resulting from mitochondrial dysfunction could be involved in Kennedy's disease. Targeting the mitochondrial dysfunction in Kennedy's disease may have significant therapeutic potential.
authors.affiliation: 1 Department of Neurology, Qingdao Municipal Hospital, School of Medicine, Qingdao University, Qingdao 266071, China ; 2 Memory and Aging Center, Department of Neurology, University of California, San Francisco, USA.
authors.forename: Chong
authors.initials: C
authors.lastname: Wang
authors.affiliation: 1 Department of Neurology, Qingdao Municipal Hospital, School of Medicine, Qingdao University, Qingdao 266071, China ; 2 Memory and Aging Center, Department of Neurology, University of California, San Francisco, USA.
authors.forename: Wei
authors.initials: W
authors.lastname: Chen
authors.affiliation: 1 Department of Neurology, Qingdao Municipal Hospital, School of Medicine, Qingdao University, Qingdao 266071, China ; 2 Memory and Aging Center, Department of Neurology, University of California, San Francisco, USA.
authors.forename: Dan
authors.initials: D
authors.lastname: Miao
authors.affiliation: 1 Department of Neurology, Qingdao Municipal Hospital, School of Medicine, Qingdao University, Qingdao 266071, China ; 2 Memory and Aging Center, Department of Neurology, University of California, San Francisco, USA.
authors.forename: Jin-Tai
authors.initials: JT
authors.lastname: Yu
authors.affiliation: 1 Department of Neurology, Qingdao Municipal Hospital, School of Medicine, Qingdao University, Qingdao 266071, China ; 2 Memory and Aging Center, Department of Neurology, University of California, San Francisco, USA.
authors.forename: Lan
authors.initials: L
authors.lastname: Tan
keywords: Kennedy’s disease; mitochondrial dysfunction; oxidative stress; spinal and bulbar muscle atrophy