BackgroundIt was previously shown that the MTHFR gene polymorphism correlated with an increased risk of migraine, particularly migraine with aura. The substitution of cytosine for thymine at the position 677 of the MTHFR gene leads to formation of the thermolabile form of the protein and development of hyperhomocysteinemia, which increases the probability of migraine. The purpose of this study was to determine whether the replacement of C677T in the gene MTHFR influenced any particular symptoms of the disease.MethodsWe have analyzed clinical and electrophysiological characteristics of 83 patients with migraine (migraine with aura (MA), 19 patients, and migraine without aura (MO), 64 patients, according to the ICHD-II (2003)) taking into account their genotypes of C677T variant of MTHFR.ResultsWe have shown that MA was significantly more prevalent among the T-allele carriers (37.2%), as compared to the СС genotype patients (0%), р < 0.0001. Patients with TT genotype were not only more likely to have accompanying symptoms (significant differences were found only for photophobia), but also more sensitive to migraine attack triggers. In RP-VEP test results we observed a trend that the T-allele carriers were presented with the decreased N75/P100 amplitudes and a positive habituation index, as compared to the СС genotype patients.ConclusionsThus, according to our data, the MTHFR genotypes are associated with several clinical and electrophysiological characteristics of migraine.
Background:One of key functions in the pathogenesis of anaphylaxis is held by platelet-activating factor (PAF). However, no research on detection of transcriptional activity of PAF-acetylhydrolase gene (PLA2G7) in patients with anaphylaxis has been held so far.The aim of this study is to evaluate transcriptional activity (expression at mRNA level) of PLA2G7 gene (plateletactivating factor acetylhydrolase) in patients with a history of anaphylaxis.Methods: 97 children were enrolled in the study: 27 children with a history of food anaphylaxis (group 1); 35 children with atopic dermatitis (group 2); 35 children without allergic diseases (group 3). Group 3 children were tested with Phadiatop and Phadiatop Infant ("Phadia 100"; "Phadia AB", Sweden): 26 children were IgE-negative, 9 children were IgE-positive.RNA was extracted from blood samples with Trizol RNA Prep kits ("Isogen", Russia). cDNA production was performed with MMLV RT kit ("Evrogen", Russia). Real-time PCR was held with CFX-96 device ("Bio-Rad", USA) and qPCRmix-HS PCR mix ("Evrogen", Russia). Oligonucleotide primers and probes were synthesized at "DNK-Sintez" (Russia). Results:In children with a history of food anaphylaxis statistically significant decrease in PLA2G7 gene expression was detected (p<0.05) in compare with children free of allergic diseases.Transcriptional activity of PLA2G7 was significantly lower in children with severe anaphylaxis and in children with moderate anaphylaxis in compare with mild anaphylaxis children (p<0.05). In moderate/severe anaphylaxis children PLA2G7 expression was more than three times decreased in compare with atopic dermatitis children (p<0.05).In children with anaphylaxis characterized by clinical symptoms of cardiovascular manifestations the PLA2G7 expression level was significantly reduced in compare with anaphylaxis children free of cardiovascular symptoms (p<0.05). Conclusion:Reduction of blood cells PLA2G7 mRNA level in children with a history of food anaphylaxis may be considered to be a biomarker of severe anaphylaxis.
Objective: There is evidence that brain-derived neurotrophic factor (BDNF) has a role in migraine pathophysiology. In our research, association of substitutions in BDNF gene (rs6265, rs11030107, rs2049046) with clinical parameters of migraine is considered. Background: Brain-derived neurotrophic factor (BDNF) is a neurotrophin presented widely in central nervous system. BDNF regulates axonal growth and differentiation; synapse formation; activity of dopaminergic, serotoninergic, GABA-ergic, and cholinergic neurons. Apparently, BDNF participates in the development of the primary forms of headaches. Patients and Methods: The research included 155 patients with migraine (according to ICHD-III, 2013). The control group consisted in 203 unexamined individuals. Patients underwent clinical neurological examination and blood sampling. Genotypes were determined using PCR-RFLP method. Results: We did not find a significant association between studied SNPs and migraine. We showed that the TT-genotype of rs2049046 influences the migraine chronification the episodes transform by regression of prodromal period, and the endurance of episodes themselves shortens. The GG genotype of rs6265 has no significant influence on the formation and manifestation of migraine. Possession of G-allele of rs1030107 influences the formation of drug abuse and higher frequency of photo-and phonophobia during the migraine episode. Conclusions: Our results suggest that the substitutions rs2049046 and rs1030107 in BDNF gene play role in formation of clinical manifestations of migraine.
Nowadays migraine ranks 9th in the list of leading causes of disability among population. In Russia migraine prevalence is two times higher than the world index and inflicts a considerable damage on the state economy. Despite almost one-century history of studying migraine, science until now cannot explain many cases of attack occurrence. It causes difficulties both for diagnosis and treatment -the therapy of patients with migraine is not sufficiently effective. Today one of the investigation directions is searching of migraine biomarkers confirming diagnosis. In this review we attempted to generalize the results of available works targeted at searching genetic markers of migraine.
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