IntroductionMigraine is considered to be a multifactorial, complex disease. Various genetic and environmental factors contribute to the manifestation of this disease. The aim of this study was to determine whether polymorphisms in the tumour necrosis factor (TNF) region are associated with the risk of migraine. We examined the association between 6 single nucleotide polymorphisms in the coding regions of TNF-α and TNF-β genes and migraine.Material and methodsThe study included two groups of children (group A and group B). Group A consisted of 103 unrelated children with typical migraine without aura 5–14 years of age. Group B (control group) consisted of 178 unrelated healthy children. The diagnosis of migraine was, in all patients, made according to the International Classification of Headache Disorders (ICHD II).ResultsAccording to our results positive family history was present in 62.2% of patients of group A. No significant differences were found in the frequencies of genotypes or alleles between patients and controls. The non-parametric analyses of variance showed no significant differences in the age at onset between genotype groups of the TNF-α and TNF-β gene polymorphisms. Comparison of genotype frequencies between boys and girls in affected patients and control individuals were not significantly different (p = 0.089, p =0.073 respectively). The distribution of TNF polymorphisms was not associated with the presence of family history of migraine in patients.ConclusionsOur data indicate that TNF-α and TNF-β gene polymorphisms are not a significant risk factor for migraine without aura in Greek children.
The mechanisms of stress tolerance in sessile animals, such as molluscs, can offer fundamental insights into the adaptation of organisms for a wide range of environmental challenges. One of the best studied processes at the molecular level relevant to stress tolerance is the heat shock response in the genus Mytilus. We focus on the upstream region of Mytilus galloprovincialis Hsp90 genes and their structural and functional associations, using comparative genomics and network inference. Sequence comparison of this region provides novel evidence that the transcription of Hsp90 is regulated via a dense region of transcription factor binding sites, also containing a region with similarity to the Gamera family of LINE-like repetitive sequences and a genus-specific element of unknown function. Furthermore, we infer a set of gene networks from tissue-specific expression data, and specifically extract an Hsp class-associated network, with 174 genes and 2,226 associations, exhibiting a complex pattern of expression across multiple tissue types. Our results (i) suggest that the heat shock response in the genus Mytilus is regulated by an unexpectedly complex upstream region, and (ii) provide new directions for the use of the heat shock process as a biosensor system for environmental monitoring.
The prevalence of canine leishmaniosis (CanL) infection in an enzootic area is considerably higher than the overall prevalence of the disease, suggesting a role of host genetics related to the outcome of the disease. It is accepted that one determining factor for the outcome of CanL is the type of the triggered immune response, which seems to be genetically determined. TNF-α is a cytokine which plays a crucial role during the immune response against Leishmania parasites. In the present study a case-control study with 20 resistant and 20 susceptible dogs was performed. The distribution of breeds was equal in both groups. By Sanger method the nucleotide sequence upstream the Open Reading Frame of the canine TNF-α gene was determined and four polymorphisms were identified (−40 C/A, −1134 T/G, −1150 T/C κα −1243 C/G). Statistical analysis showed that the polymorphism TNF-α −40 C/A is correlated with susceptibility to CanL, while the polymorphism TNF-α −1243 C/G is correlated with resistance to CanL. Further statistical analysis, regarding the possible correlation of gender as well as clinical manifestations of the disease with the above-mentioned polymorphisms of the TNF-α gene, showed no significant findings. Further analysis of the above polymorphisms, as well as identification of more polymorphisms in candidate genes, is required to provide a better understanding of the complex underlying immune response in CanL.
ΣΥΝΤΜΗΣΕΙΣ-ΓΛΩΣΣΑΡΙ ºC: βαθµοί κελσίου (Celcius degree) Α: αδενίνη aa: αµινοξύ (amino acid) ΑΤΡ: τριφωσφορική αδενοσίνη ΑΤΡase/άση: πρωτεΐνη που υδρολύει ATP bp: ζεύγος νουκλεοτιδικών βάσεων (base pair) BSA: αλβουµίνη ορού βοδιού (Bovine Serum Albumin) C: κυτοσίνη cDNA: συµπληρωµατικό DNA (complementary DNA) CIAP: εντερική αλκαλική φωσφατάση µοσχαριού (Calf Intestine Alkaline Phosphatase) cm: εκατοστόµετρο cm 2 : τετραγωνικό εκατοστόµετρο cpm: κρούσεις/λεπτό (counts per minute) ddH 2 O: δις απεσταγµένο νερό (double distilled H 2 O) ∆G: εσωτερική ενέργεια DNA: δεοξυριβονουκλεϊκό οξύ (Deoxyribonucleic Acid) DNase/ DNάση: δεοξυριβονουκλεάση dNTP: τριφωσφορική δεοξυ-Ν, όπου Ν: Α (αδενίνη), C (κυτοσίνη), G (γουανίνη), T (θυµίνη) EDTA: αιθυλενο-διαµινο-τετραοξικό-οξύ ER: ενδοπλασµατικό δίκτυο (Endoplasmic Reticulum) EST: Expressed Sequence Tag G: γουανίνη g: επιτάχυνση της βαρύτητας gr: γραµµάριο Grp: πρωτεΐνη ρυθµιζόµενη από γλυκόζη (Glucose regulated protein) h: ώρες HSE: Στοιχεία Απόκρισης στο Θερµικό Πλήγµα (Heat Shock Elements) HSF: Παράγοντας Θερµικού Πλήγµατος (Heat Shock Factor) Ηsp: Πρωτεΐνη Θερµικού Πλήγµατος (Heat shock protein) in vitro: εν υάλω (στο εργαστήριο) in vivo: εν ζωή (στη φύση) kb: χιλιάδες ζεύγη νουκλεοτιδικών βάσεων kDa: χιλιοντάλτον, µονάδα µέτρησης µοριακού βάρους πρωτεΐνης (kilo-Dalton) kg: κιλό ln: φυσικός λογάριθµος lt: λίτρο Μ: µοριακότητα (Molarity) mg: χιλιοστογραµµάριο ml: χιλιοστόλιτρο mm: χιλιοστόµετρα µg: µικρογραµµάριο µl: µικρόλιτρο µΜ: µικροµοριακότητα MP: Μέγιστη Φειδωλότητα (Maximum Parsimony) mtDNA: µιτοχονδριακό DNA (mitochondrial DNA) ΜΥΑ: εκαττοµύρια χρόνια πριν (Million Years Ago) n: απλοειδής αριθµός χρωµοσωµάτων, αριθµός ατόµων ΝΕΒ: New England Biolabs ng: νανογραµµάριο NJ: Neighbor-Joining nM: νανοµοριακότητα O.D.: οπτική πυκνότητα (optical density) ORF: ανοιχτό αναγνωστικό πλαίσιο (Open Reading Frame) PCR: αλυσιδωτή αντίδραση της πολυµεράσης (Polymerase Chain Reaction) pfu: ιική µονάδα ικανή δηµιουργίας πλάκας (plaque forming unit) pg: πικογραµµάρια PEG: PolyEthylene Glycol PVP: PolyVinylPyrrolidone RNA: ριβονουκλεϊκό οξύ (Ribonucleic Acid) RNase/ RNάση: ριβονουκλεάση rpm: στροφές/λεπτό (rounds per minute) RT: θερµοκρασία δωµατίου (Room Temperature) SDS: θειϊκό δωδεκανικό νάτριο (Sodium Dodecyl Sulfate) Τ: θυµίνη TIS: Transcription Initiation Site Tm: θερµοκρασία αποδιάταξης (melting temperature) Unit: µονάδα δραστικότητας ενζύµου UTR: µη µεταφραζόµενη περιοχή (untranslated region) UV: υπεριώδες (ultraviolet) V: βολτ (volts) Weiss Unit: µονάδα δραστικότητας λιγάσηςI. ΕΙΣΑΓΩΓΗ HSP100 78-104 CYT, ER, MT, CH Ενίσχυση θερµοανθεκτικότητας, σαπερόνες HSP90 82-94 CYT, ER, MT, CH Επαναδιαµόρφωση πρωτεϊνών, µεταγωγή σήµατος, υποδοχείς στεροειδών ορµονών και κινασών, σαπερόνες HSP70 68-78 CYT, ER, MT, CH Επαναδιαµόρφωση πρωτεϊνών, πρωτεόλυση, σαπερόνες , µεταβίβαση σήµατος, υποδοχείς στεροειδών ορµονών και κινασών, αποδιάταξη κλαθρίνης HSP60 56-60 CYT, MT, CH Σαπερονίνες, επαναδιαµόρφωση πρωτεϊνών, πρωτεόλυση, σχηµατισµός Rubisco HSP40 35-50 CYT, ER, MT Επαναδιαµόρφωση πρωτεϊνών...
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