The association between antioxidant enzyme polymorphisms and cerebral palsy after perinatal hypoxic-ischaemic encephalopathy

Esih, Katarina; Goričar, Katja; Dolžan, Vita; Rener-Primec, Zvonka

doi:10.1016/j.ejpn.2016.05.018

Cited by 24 publications

(19 citation statements)

References 27 publications

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“…Genetic factors could therefore alter the subsequent processes of tissue inflammation and destruction following HIE. Consequently, this could also contribute to the outcome after HIE and lead to different patterns and severity of brain injury [ 18 , 19 ] and could be one of the possible mechanisms for the lower effectiveness of the hypothermia treatment in some patients.…”

Section: Introductionmentioning

confidence: 99%

CARD8 and IL1B Polymorphisms Influence MRI Brain Patterns in Newborns with Hypoxic-Ischemic Encephalopathy Treated with Hypothermia

et al. 2021

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Inflammation and oxidative stress are recognized as important contributors of brain injury in newborns due to a perinatal hypoxic-ischemic (HI) insult. Genetic variability in these pathways could influence the response to HI and the outcome of brain injury. The aim of our study was to evaluate the impact of common single-nucleotide polymorphisms in the genes involved in inflammation and response to oxidative stress on brain injury in newborns after perinatal HI insult based on the severity and pattern of magnetic resonance imaging (MRI) findings. The DNA of 44 subjects was isolated from buccal swabs. Genotyping was performed for NLRP3 rs35829419, CARD8 rs2043211, IL1B rs16944, IL1B rs1143623, IL1B rs1071676, TNF rs1800629, CAT rs1001179, SOD2 rs4880, and GPX1 rs1050450. Polymorphism in CARD8 was found to be protective against HI brain injury detected by MRI overall findings. Polymorphisms in IL1B were associated with posterior limb of internal capsule, basal ganglia, and white matter brain patterns determined by MRI. Our results suggest a possible association between genetic variability in inflammation- and antioxidant-related pathways and the severity of brain injury after HI insult in newborns.

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Section: Introductionmentioning

confidence: 99%

CARD8 and IL1B Polymorphisms Influence MRI Brain Patterns in Newborns with Hypoxic-Ischemic Encephalopathy Treated with Hypothermia

et al. 2021

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“…Single nucleotide polymorphisms (SNPs) in genes encoding the antioxidant enzymes may change the amounts or activity of these enzymes. The CAT rs1001179 polymorphism in the transcription factor binding site (c.-262 C>T) promotes transcription of the T allele to result in increased translation [19]; however, the relationship between the polymorphism and the enzyme activity is complex [20]. MnSOD rs4880 (p.Ala16Val) reduces activity of mitochondrial SOD [21]; GPX1 rs1050450 polymorphism (p.Pro198Leu) also results in a less active variant [22].…”

Section: Introductionmentioning

confidence: 99%

Detection of metabolic syndrome burden in healthy young adults may enable timely introduction of disease prevention

Šoštarič

Jenko

Kozjek

et al. 2019

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IntroductionMetabolic syndrome and associated diseases are a global health problem. Detection of early metabolic modifications that may lead to metabolic syndrome would enable timely introduction of preventive lifestyle modifications.Material and methodsIn total 103 young, healthy adults were assessed for indicators of metabolic alterations. Anthropometric, lifestyle, genetic and biochemical parameters were assessed. Individuals who fulfilled at least one criterion for diagnosis of metabolic syndrome were assigned to the group with the higher metabolic syndrome burden (B-MeS).ResultsThe 34 young healthy individuals who were assigned to the B-MeS group had lower fat-free mass, higher body mass index, waist-to-hip ratio, fat mass, and blood pressure, more visceral fat, they were less physically active, had higher C-reactive protein values and higher catalase activity. Their phenotype was more similar to that of patients diagnosed with metabolic syndrome than the rest of the population.ConclusionsSimple anthropometric measurements, lifestyle assessment and basic biochemical measurements can be used to identify young healthy individuals with increased risk for metabolic syndrome. These assessments can be performed at periodic check-ups of the healthy population so that timely diagnosis of B-MeS can be made. As lifestyle factors have a big influence on development or improvement of the MeS, the timely diagnosis for B-MeS would enable an early opportunity for intervention for lifestyle modification in the still healthy population, saving costs and reducing disability adjusted life years.

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“…In children, single nucleotide polymorphisms in genes related to dopamine neurotransmission (D2 dopamine receptor, dopamine transporter, catechol-o-methytransferase, and ankyrin repeat and kinase domain containing (1) have roles in short- and long-term neurobehavioral recovery after TBI (20). In term newborns, c atalase gene (21) and interleukin-6 gene (22–24) polymorphisms are associated with higher susceptibility to cerebral palsy after hypoxia-ischemia. In preterm infants, glial glutamate transporter gene EAAT2 polymorphisms associate with greater risk of cerebral palsy (25).…”

Section: Discussionmentioning

confidence: 99%

Neonatal Brain Injury and Genetic Causes of Adult-Onset Neurodegenerative Disease in Mice Interact With Effects on Acute and Late Outcomes

2019

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Neonatal brain damage and age-related neurodegenerative disease share many common mechanisms of injury involving mitochondriopathy, oxidative stress, excitotoxicity, inflammation, and neuronal cell death. We hypothesized that genes causing adult-onset neurodegeneration can influence acute outcome after CNS injury at immaturity and on the subsequent development of chronic disability after early-life brain injury. In two different transgenic (Tg) mouse models of adult-onset neurodegenerative disease, a human A53T-α-synuclein (hαSyn) model of Parkinson's disease (PD) and a human G93A-superoxide dismutase-1(hSOD1) model of amyotrophic lateral sclerosis (ALS), mortality and survivor morbidity were significantly greater than non-Tg mice and a Tg mouse model of Alzheimer's disease after neonatal traumatic brain injury (TBI). Acutely after brain injury, hαSyn neonatal mice showed a marked enhancement of protein oxidative damage in forebrain, brain regional mitochondrial oxidative metabolism, and mitochondriopathy. Extreme protein oxidative damage was also observed in neonatal mutant SOD1 mice after TBI. At 1 month of age, neuropathology in forebrain, midbrain, and brainstem of hαSyn mice with neonatal TBI was greater compared to sham hαSyn mice. Surviving hαSyn mice with TBI showed increased hαSyn aggregation and nitration and developed adult-onset disease months sooner and died earlier than non-injured hαSyn mice. Surviving hSOD1 mice with TBI also developed adult-onset disease and died sooner than non-injured hSOD1 mice. We conclude that mutant genes causing PD and ALS in humans have significant impact on mortality and morbidity after early-life brain injury and on age-related disease onset and proteinopathy in mice. This study provides novel insight into genetic determinants of poor outcomes after acute injury to the neonatal brain and how early-life brain injury can influence adult-onset neurodegenerative disease during aging.

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The association between antioxidant enzyme polymorphisms and cerebral palsy after perinatal hypoxic-ischaemic encephalopathy

Cited by 24 publications

References 27 publications

CARD8 and IL1B Polymorphisms Influence MRI Brain Patterns in Newborns with Hypoxic-Ischemic Encephalopathy Treated with Hypothermia

CARD8 and IL1B Polymorphisms Influence MRI Brain Patterns in Newborns with Hypoxic-Ischemic Encephalopathy Treated with Hypothermia

Detection of metabolic syndrome burden in healthy young adults may enable timely introduction of disease prevention

Neonatal Brain Injury and Genetic Causes of Adult-Onset Neurodegenerative Disease in Mice Interact With Effects on Acute and Late Outcomes

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