engleski

Glutathione S-transferase P1 polymorphisms in cerebral palsy

Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder of complex ethiopathogenesis, caused by damage to the developing brain which occurs prenatally, perinatally or postnatally. Glutathione S-transferases (GSTs) are a multiple-gene family of enzymes that participate in phase II drug biotransformation, steroidogenesis, cell signalling and detoxification. It comprises of several classes: Alpha (GSTA), Mu (GSTM), Pi (GSTP) and Theta (GSTT). Abnormal antioxidant and detoxification mechanisms may result in cell injury due to the inability to inactivate free radicals and therefore could affect neurodevelopmental processes. GSTP1 is the most important large group of extrahepatical enzymes thought to play a role in detoxification and in susceptibility to some diseases. The aim of this study was to estimate the frequency of A313G (Ile→ Val) and C341T (Ala→ Val) GSTP1 polymorphisms in children with cerebral palsy in comparison with healthy individuals using PCR-RFLP. Genomic DNA was extracted from leukocytes, amplified using specific primers and digested with adequate restriction enzymes. DNA samples from 60 children with CP were investigated and compared with control group of 231 healthy subjects. Obtained results show that there is no significant difference for A313G polymorphism in the frequency of mutated alelle (G) in CP (26.7 %) and healthy subjects (28.6 % ). However, in the case of C341T polymorphism, there is a statistically significant difference in the frequency of the mutated allele (T) between CP (5.83 %) and healthy subjects (27.7 %). Also, in CP subjects we didn't find any homozygotes (TT) while the frequency of TT genotype in healthy subjects is 7.8 %. Statistically significant difference between the healthy control subjects and CP subjects indicates the possible protective role of C341T polymorphism in healthy individuals.

cerebral palsy; glutathione S-transferase P1; C341T polymorphism

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