Transcriptionally Less Active Prodynorphin Promoter Alleles are Associated with Temporal Lobe Epilepsy: A Case‐Control Study and Meta‐Analysis

Kauffman, Marcelo; Consalvo, D.; Gonzalez, Moron Dolores; Kochen, Silvia

doi:10.1155/2008/723723

Cited by 18 publications

(6 citation statements)

References 17 publications

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“…], on the odds of TLE/MTLE should be considered when the more sample sizes were available. In addition, temporal lobe epilepsy is often accompanied by some other neurological pathologies, such as hippocampal sclerosis 27 , 30 . The factors of clinical features should be fully considered for the adjusted estimation in the future as well.…”

Section: Discussionmentioning

confidence: 99%

Genetic influence of Apolipoprotein E gene ε2/ε3/ε4 isoforms on odds of mesial temporal lobe epilepsy

Xu¹,

Zhang

Qiu³

et al. 2021

Afr H. Sci.

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Objective: The potential correlation between the ε2/ε3/ε4 variants of the ApoE (Apolipoprotein E) gene and the odds of mesial temporal lobe epilepsy was investigated. Methods: The database searching for eligible studies was performed in October 2020. A series of pooling analyses were conducted. Results: We enrolled a total of twelve case-control studies for pooling. Within the pooling analysis of ε4, there was an in- creased risk of mesial temporal lobe epilepsy in cases under the models of carrier ε4 vs. ε3, ε3ε4 vs. ε3ε3, and ε3ε4+ε4ε4 vs. ε3ε3 [P < 0.05, odds ratio (OR) > 1], compared with controls. Moreover, we observed similar positive results in the subgroup analyses of “China” and “Population-based control” under the genetic models of ε4 (P < 0.05, OR > 1). Nevertheless, we did not detect the significant difference between the mesial temporal lobe epilepsy cases and controls in the pooling analyses of ε2 (all P > 0.05). Conclusion: The ε3ε4 genotype of ApoE seems to be linked to the risk of mesial temporal lobe epilepsy for patients in China. More sample sizes are required to confirm the potential role of ApoE isoforms in the susceptibility to diverse types of epilepsy from different origins. Keywords: Epilepsy; ApoE; isoforms; susceptibility.

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Section: Discussionmentioning

confidence: 99%

Genetic influence of Apolipoprotein E gene ε2/ε3/ε4 isoforms on odds of mesial temporal lobe epilepsy

Xu¹,

Zhang

Qiu³

et al. 2021

Afr H. Sci.

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“…2002; Bovo et al . 2008; Kauffman et al . 2008), considered to play a role in the transcriptional activity of the PDYN gene promoter.…”

Section: Discussionmentioning

confidence: 99%

Cell‐specific effects of variants of the 68‐base pair tandem repeat on prodynorphin gene promoter activity

Rouault

Nielsen

et al. 2010

Addiction Biology

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A polymorphic 68-bp tandem repeat has been identified within the promoter of the human prodynorphin (PDYN) gene. We found that this 68-bp repeat in the PDYN promoter occurs naturally up to five times. We studied the effect of the number of 68-bp repeats, and of a SNP (rs61761346) found within the repeat on PDYN gene promoter activity. Thirteen promoter forms, different naturally occurring combinations of repeats and the internal SNP, were cloned upstream of the luciferase reporter gene, transfected into human SK-N-SH, H69, or HEK293 cells. Cells were then stimulated with TPA or caffeine. We found cell-specific effects of the number of 68-bp repeats on the transcriptional activity of the PDYN promoter. In SK-N-SH and H69 cells, three or four repeats led to lower expression of luciferase than did one or two repeats. The opposite effect was found in HEK293 cells. The SNP also had an effect on PDYN gene expression in both SK-N-SH and H69 cells; promoter forms with the A allele had significantly higher expression than promoter forms with the G allele. These results further our understanding of the complex transcriptional regulation of the PDYN gene promoter.

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“…According to the literature, natural opioid peptides have both proconvulsant and anticonvulsant effects, participating in spontaneous seizures. Anticonvulsant action is described more often [17,18]. Since the seizure phenomenon is often associated with severe electrical discharges in the brain, it is believed that most neurohumoral transmitters play a role in the events before or after the seizure [19].…”

Section: Figure 1 Gender Distribution Of the Study Populationmentioning

confidence: 99%

Peculiarities of Chronic Pain and Pain-Related Stress Markers in Preterm Infants

Pavlyshyn¹,

Sarapuk²,

Kozak³

et al. 2023

Neonatol. hìr. perinat. med.

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Preterm infants are a special cohort of newborns that require long-term treatment in the neonatal intensive care unit (NICU). NICU stay, accompanied by numerous excessive stimuli, painful procedures, and separation from parents leads to a high risk of chronic pain and stress.The aim of research was to study the level of chronic pain and pain-related stress markers in preterm infants with a gestational age of less than 34 weeks, and their associations with various factors.Materials and methods. The study involved 104 preterm infants with gestational age (GA) less than 34 weeks who were treated in the NICU. The level of chronic pain and pain-related stress markers (dopamine, β-endorphin, serotonin) in urine samples was determined by an enzyme-linked immunosorbent assay using kits for the quantitative determination of dopamine (Dopamine Elisa kit, Elabscience, Wuhan, China), β-endorphin (β-endorphin Elisa kit, Elabscience, Wuhan, China), serotonin (Serotonin Elisa kit, Elabscience, Wuhan, China). Samples were analyzed in duplicate, and assays were performed using provided controls according to the manufacturer’s instructions.Ethics approval was obtained from the appropriate local ethics committee and research was conducted under the World Medical Association’s Helsinki Declaration. Informed consent was obtained from all the participants who took part in the study.All computations were performed using StatSoft STATISTICA Version 13 (Tulsa, OK). Quantitative data are presented as the median and interquartile range (IQR; 25th to 75th percentiles). For qualitative parameters, absolute and relative frequencies are presented. The Mann-Whitney U-test (for two independent groups) and Kruskal-Wallis test (for three groups) were used to compare numerical data. Significance was assumed at p<0.05. Correlations were analyzed using Spearman’s rank correlation coefficient.The study is a part of the scientific research: Implementation of the neuro-developmental care elements for preterm infants and their follow-up observation (0120U104281, 01.01.2020-12.31.2022).Research results and their discussion. Dopamine level in the urine of preterm infants was 132.20 [104.80; 183.70] pg/ml. It was significantly higher in children who underwent mechanical ventilation compared to non-ventilated neonates (164.60 [110.00; 253.70] pg/mL vs. 123.20 [98.65; 158.70] pg /ml), p=0.030, and was associated with the severity of respiratory disorders (H=5.84; p=0.049). Dopamine level was significantly lower in twins compared to singleton infants (113.70 [78.75; 164.70] vs. 145.10 [111.80; 208.50], p=0.017.β-endorphin level in the urine of preterm newborns was 29.87 [20.61; 46.94] pg/ml. It was significantly higher in twins compared to singletons (38.30 21.97; 59.61] vs. 27.80 [19.66; 39.16], p=0.046). β-endorphin level was significantly lower in children with neonatal seizures (p=0.039).Serotonin level in the urine of preterm infants was 23.49 [16.13; 32.19] pg/ml. It was significantly higher in neonates born by caesarean section compared to those born naturally (25.62 [18.87; 38.53] ng/ml vs. 17.41 [13.36; 27.89] ng/ml, p=0.017), and it was higher in twins compared to singletons (27.19 [18.87; 41.75] ng/ml vs. 21.98 [14.41; 29.70] ng/ml), however, with no statistical significance (р=0.073).The study revealed the positive correlation between serotonin and β-endorphin levels (r=0.68; p<0.001) in infants who required mechanical ventilation and in newborns with neonatal seizures (r=0.59; p<0.001). Positive correlation between β-endorphin and serotonin levels in twins also was found (r=0.72, p<0.001).Conclusion. This prospective cohort study showed that severe respiratory disorders in preterm infants were associated with decreased dopamine level, while serotonin and β-endorphin levels were correlated in this case. Neonatal seizures were associated with decreased β-endorphin level, while a positive correlation was found between β-endorphin and serotonin levels. Dopamine levels were significantly lower and β-endorphin levels significantly higher in twins compared to singleton preterm neonates. Serotonin level was significantly higher in neonates born by caesarean section. Gestational age, birth weight, gender, early-onset sepsis, and intraventricular hemorrhage were not associated with increased or decreased levels of pain and pain-related stress markers in preterm infants.

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Transcriptionally Less Active Prodynorphin Promoter Alleles are Associated with Temporal Lobe Epilepsy: A Case‐Control Study and Meta‐Analysis

Cited by 18 publications

References 17 publications

Genetic influence of Apolipoprotein E gene ε2/ε3/ε4 isoforms on odds of mesial temporal lobe epilepsy

Genetic influence of Apolipoprotein E gene ε2/ε3/ε4 isoforms on odds of mesial temporal lobe epilepsy

Cell‐specific effects of variants of the 68‐base pair tandem repeat on prodynorphin gene promoter activity

Peculiarities of Chronic Pain and Pain-Related Stress Markers in Preterm Infants

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