title: 8-hydroxy-2-desoxyguanosine serum concentrations as a marker of DNA damage in patients with classical galactosaemia.
abstract: BACKGROUND
  Classical galactosaemia is caused by a deficiency of galactose-1-phosphate uridyl transferase, resulting in high galactose (Gal), galactose-1-phosphate (Gal-1-P) and galactitol blood levels. Galactose/lactose restriction intake is the only treatment. 8-hydroxy-2-desoxyguanosine (8-OHdG) is a marker of oxidized DNA damage.
  
  
  OBJECTIVE
  Since galactosaemia outcome is closely related to restriction of Gal intake, we aimed to evaluate correlations between Gal-1-P, total antioxidant status (TAS) and 8-OHdG blood levels in galactosaemic patients on poor or strict diet.
  
  
  METHODS
  Venous blood samples were obtained from galactosaemic patients (n = 11) on poor diet (group A) and after 30 d on strict diet (group B). Twenty-eight healthy children were the controls. Gal-1-P and TAS were evaluated in their blood spectrophotometrically and 8-OHdG with an immunoassay.
  
  
  RESULTS
  TAS was significantly decreased (905 +/- 112 micromol/l) in patients on a "loose diet" (group A) as compared to those when restored to their diet (group B) (1,340 +/- 112 micromol/l, p < 0.001) and controls (1,558 +/- 115 micromol/l, p < 0.001). As expected, Gal-1-P levels were remarkably increased in group A. 8-OHdG level was twofold higher (0.25 +/- 0.03 ng/ml) in group A than that of group B (0.11 +/- 0.04 ng/ml) and threefold higher than that of the controls (0.08 +/- 0.02 ng/ml). TAS and Gal-1-P inversely correlated to 8-OHdG (r= -0.802, p < 0.001), whereas Gal-1-P positively correlated to 8-OHdG (r = 0.820, p < 0.001) in all the groups.
  
  
  CONCLUSIONS
  a) Low TAS and high Gal-1-P levels are implicated with high 8-OHdG blood levels in galactosaemic patients; b) 8-OHdG may be a sensitive biomarker of DNA damage in patients with classical galactosaemia.
authors.affiliation: Institute of Child Health, Aghia Sophia Children's Hospital, Athens, Greece.
authors.forename: Kleopatra H
authors.initials: KH
authors.lastname: Schulpis
authors.forename: Ioannis
authors.initials: I
authors.lastname: Papassotiriou
authors.forename: Stylianos
authors.initials: S
authors.lastname: Tsakiris
mesh_terms: D000911:Antibodies, Monoclonal / Q000276:immunology; D000975:Antioxidants / Q000502:physiology; D015415:Biomarkers; D002648:Child; D004249:DNA Damage / Q000276:immunology / Q000502:physiology*; D003839:Deoxyadenosines / Q000097:blood*; D004797:Enzyme-Linked Immunosorbent Assay; D005609:Free Radicals / Q000097:blood; D005693:Galactosemias / Q000097:blood* / Q000178:diet therapy / Q000276:immunology*; D006801:Humans; D018384:Oxidative Stress / Q000502:physiology; D013053:Spectrophotometry
chemical_list: C436623:8-hydroxy-2'-deoxyadenosine; D000911:Antibodies, Monoclonal; D000975:Antioxidants; D015415:Biomarkers; D003839:Deoxyadenosines; D005609:Free Radicals