Περίληψη:
Background: Classical galactosaemia is caused by a deficiency of
galactose-1-phosphate uridyl transferase, resulting in high galactose
(Ga1), 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.
Aim: 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 mu mol/l) in patients on a “loose
diet” (group A) as compared to those when restored to their diet
(group B) (1340 +/- 112 mu mol/l, p < 0.001) and controls (1558 +/- 115
mu mol/l, p < 0.001). As expected, Gal-1-P levels were remarkably
increased in group A. 8-OHdG level was twofold higher (0.259/0.03 ng/ml)
in group A than that of group B (0.11 +/- 0.04 ng/ml) and threefold
higher than that of the controls (0.089/0.02 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.
Conclusion: 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.
Συγγραφείς:
Schulpis, KH
Papassotiriou, I
Tsakiris, S
