title: Mitochondrial DNA damage in spinal and bulbar muscular atrophy patients and carriers.
abstract: BACKGROUND
  Mitochondrial DNA (mtDNA) damage may be involved in the pathogenesis of spinal and bulbar muscular atrophy (SBMA).
  
  
  METHODS
  We recruited 20 SBMA patients, 20 SBMA female carriers, and 20 normal age-matched subjects. Mitochondrial DNA damage in the 3 groups of subjects was evaluated using three novel mtDNA oxidative markers: mtDNA copy number, 4977 bp deletion of mtDNA (mtDNA4977) and oxidative modification of mtDNA index (mtDNA(DeltaCT)) in leukocytes.
  
  
  RESULTS
  Decreased leukocyte mtDNA copy number, increased mtDNA(DeltaCT) value, and increased frequency of mtDNA4977 which correspond to the number of CAG repeats in the mutated androgen receptor gene, were found not only in SBMA patients but also in female carriers.
  
  
  CONCLUSIONS
  Leukocyte mtDNA copy number, mtDNA(DeltaCT) and mtDNA4977 may serve as useful biomarkers of mtDNA damage and can be used to monitor SBMA disease progression.
authors.affiliation: Division of Endocrinology and Metabolism, Department of Internal Medicine, Changhua Christian Hospital, Changhua 500, Taiwan.
authors.forename: Shihli
authors.initials: S
authors.lastname: Su
authors.forename: Shawhwa
authors.initials: S
authors.lastname: Jou
authors.forename: Wenling
authors.initials: W
authors.lastname: Cheng
authors.forename: Tatsung
authors.initials: T
authors.lastname: Lin
authors.forename: Jieyuan
authors.initials: J
authors.lastname: Li
authors.forename: Chinchang
authors.initials: C
authors.lastname: Huang
authors.forename: Yichung
authors.initials: Y
authors.lastname: Lee
authors.forename: Bingwen
authors.initials: B
authors.lastname: Soong
authors.forename: Chinsan
authors.initials: C
authors.lastname: Liu
mesh_terms: D000080242:8-Hydroxy-2'-Deoxyguanosine; D000328:Adult; D015415:Biomarkers / Q000032:analysis; D055534:Bulbo-Spinal Atrophy, X-Linked / Q000235:genetics*; D004249:DNA Damage / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000032:analysis / Q000235:genetics*; D003849:Deoxyguanosine / Q000031:analogs & derivatives / Q000032:analysis; D005260:Female; D017353:Gene Deletion; D054629:Genome, Mitochondrial / Q000235:genetics; D006801:Humans; D007962:Leukocytes / Q000737:chemistry; D008297:Male; D008875:Middle Aged; D011944:Receptors, Androgen / Q000235:genetics; D018911:Trinucleotide Repeats / Q000235:genetics; D055815:Young Adult
chemical_list: D015415:Biomarkers; D004272:DNA, Mitochondrial; D011944:Receptors, Androgen; D000080242:8-Hydroxy-2'-Deoxyguanosine; D003849:Deoxyguanosine