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Neurology, Neuropsychiatry, Psychosomatics

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92
Abstract

Temporal lobe epilepsy (TLE) is one of the most common and refractory forms of epilepsy, with a different etiology. According to experimental and clinical studies, the transformation of the normal pattern of brain neuron activity into paroxysmal is accompanied by changes in the expression of cytokines and neurotrophins in the hippocampus and temporal cortex. Modulation of the expression of the brainderived neurotrophic factor (BDNF) may be associated with the carriage of the single nucleotide polymorphism (SNP) rs6265 in BDNF gene. Research groups have shown increased expression of BDNF in the hippocampus and temporal cortex in patients with pharmacoresistant epilepsy. Independent studies have demonstrated the role of the Il-1B gene encoding the proinflammatory cytokine IL1B in the development of inflammatory reactions and structural mediobasal TLE with hippocampal sclerosis.

Objective: to study the association of the carrier SNPs rs16944, rs1143634 of IL-1B gene and rs6265 of BDNF gene in the development of TLE.

Patients and methods: using RT-PCR, we identified carriers of SNPs rs1143634 and rs16944 in Il-1B gene and rs6265 in BDNF gene, from samples of 84 patients with TLE and 203 Caucasian healthy volunteers in the Siberian Federal District.

Results: we have shown that the carriage of a high-producing allele C (OR = 2.01; 95% CI: 1.31-3.08; p = 0.001) and the homozygous genotype CC (OR = 2.48; 95% CI: 1.47-4.17; p = 0.001) SNPs in IL-1B gene (rs1143634) are statistically significantly associated with TLE in Siberian population. There were no statistically significant differences in the carriers of SNPs in IL-1B gene (rs1143634 and rs16944) and in BDNF gene (rs6265) with clinical and anamnestic features of TLE (p> 0.05). Association of carriers of SNPs rs6265 in BDNF gene with the development of TLE was not detected (χ2 = 0.3; p = 0.86).

Conclusions: we detected association of carriers of the high-producing allele C and the homozygous genotype CC (rs1143634) in IL1B gene with temporal lobe epilepsy. 

ORIGINAL INVESTIGATIONS

17
Abstract

Temporal lobe epilepsy (TLE) is one of the most common and refractory forms of epilepsy, with a different etiology. According to experimental and clinical studies, the transformation of the normal pattern of brain neuron activity into paroxysmal one 3 is accompanied by changes in the expression of cytokines and neurotrophins in the hippocampus and temporal cortex. Modulation of the expression of the neurotrophic brain factor (Brain-Derived Neurotrophic Factor, BDNF) may be associated with the carrier of the single nucleotide polymorphism (SNP) of the rs6265 BDNF gene. The research groups have shown increased expression of BDNF in the hippocampus and temporal cortex in patients with drug resistant epilepsy. Independent studies have demonstrated the role of the Il1B gene, encoding pro-inflammatory cytokine interleukin (IL) 1β, in the development of inflammatory reactions and structural mediobasal temporal epilepsy with hippocampal sclerosis.

The purpose of the research is to study the association of the carriers of the SNP rs16944 and rs1143634 of the IL1B gene and rs6265 of the BDNF gene with the development of temporal lobe epilepsy.

Patients and methods. We carried out a molecular genetic study of the carrier of SNPs rs1143634 and rs16944 of the Il1B and rs6265 gene of the BDNF gene using real-time polymerase chain reaction (RT-PCR) in 84 patients with TLE and 203 Caucasian healthy volunteers living in the Siberian Federal Region.

Results. The carriage of a high-producing allele C (odds ratio, OR 2.01; 95% confidence interval, CI 1.31–3.08; p = 0.001) and the homozygous genotype CC (OR 2.48; 95% CI 1.47–4, 17; p = 0.001) of SNPs of the IL1B gene (rs1143634) are statistically significantly associated with the development of TLE in the population under study. No statistically significant differences in the carriers of the SNPs of the Il1B (rs1143634 and rs16944) gene and BDNF (rs6265) with the clinical features and course of TLE were revealed (p> 0.05). The association of carriers of SNPs rs6265 of the BDNF gene with the development of TLE was not detected (χ2 = 0.3; p = 0.86) as well.

Conclusion The association of the high-producing allele C carrier and the homozygous genotype CC (rs1143634) of the IL1B gene with TLE has been established. 

REVIEWS

80
Abstract
In last decades, there is evidence of the relationship of Parkinson's disease (PD) and essential tremor (ET). In addition, PD often develops when patient already suffers from ET. Today, the problem of combination between PD and ET is relevant since patients with ET have 10 times higher risk of developing PD, however, due to the diagnostic difficulties and low awareness of doctors about this nosological phenomenon, the diagnosis “PD developed from ET” is complicated. In this review, we have demonstrated a modern understanding of the clinical, epidemiological, pathogenetic and neuroimaging features of the combination of PD and ET.


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ISSN 2074-2711 (Print)
ISSN 2310-1342 (Online)