XXII. BIOCHEMICKÝ ZJAZD - Jesseniova lekárska fakulta

Posters
92.
WILSON’s DISEaSE aND OXIDaTIve STrESS
Marián Koláček 1 , Jana Muchová 1 , Eva Uhlíková 1 ,
Viera Kupčová 2 and Ladislav Turecký 1
1
Institute of medical chemistry, biochemistry a clinical biochemistry
Faculty of medicine Comenius University, Bratislava
2
3 th internal clinic Faculty of medicine Comenius University
Wilson’s disease (hepatolenticular degeneration) is autosomal hereditary recessive
disorder of copper metabolism with disorder of copper excretion into the bile and its
excessive storage in some organs. Disorder is caused by mutation of the gene encoding
specific copper transport protein – ATP7B for ATPase type P. Mutated ATP7B inhibits
copper excretion into the bile, stimulates its direct release into the blood and its storage
in organs and this leads to increased free radicals production. Decreased production
of functional ceruloplasmin increases iron toxicity and thus oxidative stress becomes
further increased.
Our goal was to find out how are selected parameters of oxidative stress affected by
Wilson’s disease. The studied group consisted of 17 patients with diagnosed Wilson’s
disease (9 women and 8 men). We determined total antioxidant capacity of blood plasma
(TEAC), activity of a superoxide dismutase (SOD) in erythrocytes and nitrotyrosine –
marker of damage of proteins by free radicals derived from nitrogen.
TEAC, as well as SOD activity in erythrocytes of patients with Wilson’s disease were higher
compared to control group (2,51 mmol/l vs. 1,22 mmol/l and 11,7 U/g Hb vs. 9,2 U/g
Hb). We saw no significant difference in levels of nitrotyrosine of patients and controls
(54,7 nmol/l vs. 53,2 nmol/l).
The increase of TEAC of blood plasma in patients with Wilson’s disease may be a compensatory
response to the decline of ferooxidase activity of ceruloplasmin in serum as
well as a response to increased oxidative stress in liver.
216 XXII. Biochemistry Congress, Martin