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Published on: November 20, 2015
The association between antioxidant enzyme polymorphisms and cerebral palsy after perinatal hypoxic-ischaemic
Katarina Esih1, Katja Goričar2, Vita Dolžan2
1Department of Child, Adolescent and Developmental Neurology, Children's Hospital, University Medical Centre Ljubljana, Slovenia; Faculty of Medicine, University of Ljubljana, Slovenia.
Insights
Genetic variations in the CAT gene may increase the risk of cerebral palsy following hypoxic-ischaemic encephalopathy (HIE). This finding could help identify at-risk infants for early intervention.
Area of Science:
- Neuroscience
- Genetics
- Pediatrics
Background:
- Perinatal hypoxic-ischaemic encephalopathy (HIE) can cause brain damage due to reactive oxygen species (ROS).
- Reduced antioxidant defenses may heighten susceptibility to cerebral palsy after HIE.
- Investigating genetic polymorphisms in antioxidant genes (SOD2, GPX1, CAT) is crucial.
Purpose of the Study:
- To examine the influence of functional polymorphisms in SOD2, GPX1, and CAT genes on cerebral palsy development in HIE patients.
- To assess if these genetic variations correlate with an impaired ability to combat ROS.
Main Methods:
- Genomic DNA was extracted from buccal swabs of 80 HIE patients.
- Real-time PCR was used to genotype specific polymorphisms: SOD2 rs4880, GPX1 rs1050450, and CAT rs1001179.
Main Results:
- Carriage of the polymorphic T allele in CAT rs1001179 was significantly associated with cerebral palsy development in HIE patients (OR=3.36, p=0.026).
- This association remained significant even after adjusting for prematurity.
- No significant association was found between SOD2 or GPX1 polymorphisms and cerebral palsy post-HIE.
Conclusions:
- The CAT rs1001179 polymorphism may serve as a biomarker for identifying children at higher risk of cerebral palsy after HIE.
- This genetic marker could facilitate targeted interventions for susceptible infants.
Background:
Hypoxic-ischaemic perinatal brain injury leads to the formation of reactive oxygen species (ROS) and the resultant cell and tissue damage may cause neurological sequelae such as cerebral palsy and/or epilepsy. A decrease in the capacity for defending against ROS may increase the susceptibility to cerebral palsy. The aim of this study was to investigate the impact of common functional polymorphisms in the antioxidant genes SOD2, GPX1 and CAT, associated with a decreased capacity for defending against ROS, in patients with perinatal hypoxic-ischaemic encephalopathy (HIE).
Methods:
80 patients previously diagnosed with perinatal HIE were included. Genomic DNA was isolated from buccal swabs and genotyped for SOD2 rs4880, GPX1 rs1050450 and CAT rs1001179 using real-time PCR-based methods.
Results:
Among patients with neonatal HIE, carriers of at least one polymorphic CAT rs1001179 T allele were significantly associated with development of cerebral palsy compared to non-carriers (univariate logistic regression, p = 0.026; OR = 3.36; 95% CI = 1.16-9.76). This difference remained statistically significant after accounting for prematurity. The investigated SOD2 and GPX1 polymorphisms were not associated with cerebral palsy after perinatal HIE.
Conclusion:
CAT rs1001179 polymorphism could be used to identify children that have a higher susceptibility to cerebral palsy after perinatal HIE.
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