Polymorphism of methylenetetrahydrofolate reductase (MTHFR) folate metabolism gene and hyperhomocysteinemia in migraine

2021 ◽  
pp. 109-115
Author(s):  
З.Г. Тадтаева ◽  
Е.Е. Яковлева ◽  
А.В. Амелин
Keyword(s):  
Neurogenic Inflammation ◽  
Methylenetetrahydrofolate Reductase ◽  
Web Of Science ◽  
Genetic Research ◽  
Folate Metabolism ◽  
Migraine Treatment ◽  
Social Significance ◽  
Folate Cycle ◽  
Metabolism Gene

В обзоре обсуждается роль полиморфизма гена фолатного обмена метилентетрагидрофолат-редуктазы (MTHFR), ответственного за развитие гипергомоцистеинемии в патогенезе мигрени. Изложены общие данные о полиморфизме С677 гена фолатного цикла и метаболизме гомоцистеина. Представлен патогенетический механизм развития мигрени, связанный с провоспалительными, прокоагулянтными свойствами гомоцистеина, активацией процессов окислительного стресса, эндотелиальной дисфункцией и нейрогенным воспалением при повышении концентрации этой аминокислоты. Отражены перспективы и социальная значимость имплементации данных генетических исследований в клиническую практику, их роль в прогнозировании течения мигрени и оценке риска развития осложнений, а также коррекции фармакотерапевтических подходов. Методика. Для поиска данных в базах MEDLINE, SCOPUS и Web of Science использованы поисковые запросы: МТHFR, мигрень, патофизиология, гипергомоцистеинемия, таргетная терапия. The review discusses the role of polymorphism of the methylenetetrahydrofolate reductase (MTHFR) folate metabolism gene responsible for hyperhomocysteinemia in the pathogenesis of migraine. Data on the polymorphism of the folate cycle gene C677 and homocysteine metabolism are presented. The pathogenetic mechanism of migraine associated with proinflammatory, procoagulant properties of homocysteine and with the activation of oxidative stress, endothelial dysfunction, and neurogenic inflammation related with increased concentrations of homocysteine is described. Prospects and social significance of implementing data of genetic research into clinical practice are discussed. Included is the role of genetic research in predicting the course and complications of migraine, in assessment of risk for complications, and in pharmacotherapeutic approaches to migraine treatment. Methods. MEDLINE, SCOPUS and Web of Science databases were used to search for data: MTHFR, migraine, pathophysiology, hyperhomocysteinemia, targeted therapy

ROLE OF GENETIC POLYMORPHISMS ASSOCIATED WITH THROMBOPHILIA, PROTHROMBOTIC STATE AND FOLATE CYCLE DISTURBANCES IN WOMEN WITH REPRODUCTIVE DISORDERS

2017 ◽  
Author(s):  
А. Киселева ◽  
Е. Бутина ◽  
Г. Зайцева ◽  
Е. Попонина ◽  
С. Игнатьев ◽  
...  
Keyword(s):  
Genetic Disorders ◽  
Folate Metabolism ◽  
Clear Understanding ◽  
Reproductive Disorders ◽  
Primary Infertility ◽  
Risk Alleles ◽  
Heterozygous Form ◽  
Folate Cycle ◽  
Pai 1

Введение. Причины осложнения беременности достаточно многообразны: хромосомные и генетические нарушения, эндокринопатии, анатомические, инфекционные, иммунные и тромбофилические факторы. До настоящего времени нет четкого представления об истинных составляющих нарушения гестационного процесса. Материалы и методы. Проведено исследование аллелей, ассоциированных с тромбофилией и протромботическими состояниями, у 629 женщин и генов фолатного обмена у 277 женщин с отягощенным акушерским анамнезом. Результаты. Проанализирован характер распределения «аллелей риска» у женщин с первичным бесплодием, осложненными родами, неразвивающимися беременностями и у женщин без отягощенного акушерского анамнеза. Представлены данные о частоте встречаемости генетических мутаций, ассоциированных с тромбофилией (F2, F5), протромботическими состояниями (F7, F13, FGB, ITGA-2, ITGB-3, PAI-1) и нарушениями фолатного обмена (MTFFR, MTR, MTRR) у женщин с репродуктивными расстройствами. Заключение. Обнаружены статистически значимые различия в частоте распределения гетерозиготной формы полиморфизма ITGB3 у женщин с первичным бесплодием и осложненными родами в сравнении с женщинами без репродуктивных неудач. Влияние других полиморфных генов, ассоциированных с тромбофилией, протромботическими состояниями и нарушениями фолатного обмена, на наступление, течение и исход беременности не подтверждено. Introduction. The causes of pregnancy complications are quite multiformous: chromosomal and genetic disorders, endocrinopathies, anatomical, infectious, immune and thrombophilic factors. Until now there is no clear understanding of true components of gestational disorders. Materials and methods. We studied alleles associated with thrombophilia and prothrombotic conditions (in 629 women) and folate metabolism genes (in 277 women) with burdened obstetrical anamnesis. Results. The distribution of «risk alleles» in women with primary infertility, complicated delivery, non-developing pregnancy and at women without aggravated obstetric history was analyzed. Data about incidence of genetic mutations associated with thrombophilia (F2, F5), prothrombotic states (F7, F13, FGB, ITGA-2, ITGB-3, PAI-1) and folate metabolism disturbances (MTFFR, MTR, MTRR) in women with reproductive disorders are presented. Conclusion. Statistically signifi cant diff erences in distribution rate of heterozygous form of ITGB3 polymorphism in women with primary infertility and complicated delivery in comparison with women without reproductive failures were found. Impact of other polymorphic genes associated with thrombophilia, prothrombotic states and disturbances of folate metabolism to onset, gestation course and outcome of pregnancy was not proved.

scholarly journals Folate Metabolism Gene 5,10-Methylenetetrahydrofolate Reductase (MTHFR) Is Associated with ADHD in Myelomeningocele Patients

PLoS ONE ◽  
2012 ◽  
Vol 7 (12) ◽  
pp. e51330 ◽  
Author(s):  
Catherine J. Spellicy ◽  
Hope Northrup ◽  
Jack M. Fletcher ◽  
Paul T. Cirino ◽  
Maureen Dennis ◽  
...  
Keyword(s):  
Methylenetetrahydrofolate Reductase ◽  
Folate Metabolism ◽  
Metabolism Gene

Genetic predictors for symptoms recurrenсe in coronary artery disease after percutaneous coronary intervention

2017 ◽  
pp. 81-86
Author(s):  
Г.А. Березовская ◽  
Е.С. Клокова ◽  
Н.Н. Петрищев
Keyword(s):  
Coronary Artery Disease ◽  
Percutaneous Coronary Intervention ◽  
Coronary Artery ◽  
Coronary Intervention ◽  
Folate Metabolism ◽  
Genotype Distribution ◽  
Polymorphic Markers ◽  
Percutaneous Coronary ◽  
Artery Disease

Гены тромбообразования и фолатного обмена играют важную роль в развитии и прогрессии ишемической болезни сердца (ИБС). Однако о возможной роли полиморфных маркеров в рецидиве ИБС после чрескожного коронарного вмешательства (ЧКВ) известно недостаточно. Цель исследования: Оценить роль генетических факторов системы тромбообразования и фолатного обмена (полиморфных маркеров генов F5, F2, F13A1, PAI1, HPA1, MTHFR, FGB ), в возобновление клиники ИБС после ЧКВ. Методика: Исследование проводили с использованием выборки из 90 больных ИБС в возрасте от 40 до 75 лет: 75 пациентов после планового ЧКВ (60 мужчин и 15 женщин) и 15 лиц после экстренного ЧКВ (12 мужчин и 3 женщины). Молекулярно-генетическое исследование было выполнено с помощью комплекта реагентов «Сердечно-сосудистые заболевания СтрипМетод»® (ViennaLab Diagnostics GmbH, Австрия), выявляющие следующие варианты: F5, F2, F13A1, PAI1, HPA1, MTHFR, FGB . Результаты: В результате исследования была показана ассоциация полиморфного маркера G103T ( Val34Leu ) гена F13A1 (фактор свертываемости крови 13, субъединица A1) с развитием рецидивирующего состояния ИБС после ЧКВ. Выявлены статистически значимые различия в распределении частот генотипов полиморфного маркера Val34Leu гена F13A1 . Показано, что частота генотипа Val/Val у пациентов с осложнениями была выше, чем у пациентов без таковых: 0,700 и 0,400 соответственно (c = 7,78; p = 0,020), при этом генотип Val/Val проявил себя как фактор риска развития осложнений: ОШ = 3,50 (95%ДИ 1,37-8,93). При сравнении аллелей выявили, что частота аллеля L у больных с осложнениями была ниже, чем у лиц без таковых: 0,167 и 0,375 соответственно (p = 0,004), и носительство аллеля L уменьшало вероятность развития осложнений: ОШ = 0,33 (95%ДИ 0,15-0,72). Заключение: Носительство варианта 34V гена F13A1 , кодирующего A-субъединицу фактора свёртывания 13, предрасполагает к возобновлению клинических проявлений ИБС после ЧКВ. Genes of thrombosis and folate metabolism play an important role in development and progression of coronary artery disease (CAD). However, a possible role of polymorphic markers in CAD relapse following percutaneous coronary intervention (PCI) is not sufficiently understood. Background. Reports have indicated an association of genetic factors generally related with thrombophilia and recurrence of symptoms for coronary artery disease (CAD) following a percutaneous coronary intervention (PCI) due to restenosis and in-stent thrombosis. However, the relapse can also be caused by progression of atherosclerosis and endothelial dysfunction in unoperated blood vessels. Aim: To assess the role of genetic risk factors involved in thrombosis and folate metabolism (polymorphic markers of F5, F2, F13A1, PAI1, HPA1, MTHFR, and FGB genes) in recurrence of CAD symptoms after PCI. Methods: The study included 90 patients with CAD aged 40-75; 75 of these patients had undergone elective PCI (60 men and 15 women) and 15 patients - emergency PCI (12 men and 3 women). Molecular genetic tests were performed using a CVD StripAssays® reagent kit (ViennaLab Diagnostics GmbH, Austria) to identify the following genetic variations: F5, F2, F13A1, PAI1, HPA1, MTHFR, and FGB . Results: The study results showed a significant association of the G103T ( Val34Leu ) polymorphism in the F13A1 gene with relapses of IHD after PCI. Significant differences were found in genotype distribution frequencies of the Val34Leu polymorphism in the F13A1 gene. The frequency of Val / Val genotype was higher in patients with complications than without complications, 0.700 and 0.400, respectively (c = 7.78, p = 0.020). Furthermore, the Val/Val genotype can be classified as a risk factor for complications (OR = 3.50; 95% CI, 1.37-8.93). The L allele frequency was lower in patients with complications than in those without complications (0.167 and 0.375, respectively, p = 0.004), and carriage of the L allele reduced the likelihood of complications (OR = 0.33; 95% CI 0.15-0.72). Conclusion: Carriage of the 34V variant in the F13A1 gene that encodes the coagulation factor XIII A subunit predisposes to a relapse of CAD symptoms after PCI.

Use of riboflavinum and magnesium citrate in obstetrics and gynecology

GYNECOLOGY ◽  
2018 ◽  
Vol 20 (6) ◽  
pp. 60-66
Author(s):  
O A Gromova ◽  
I Yu Torshin ◽  
N K Tetruashvili
Keyword(s):  
Thrombus Formation ◽  
Sirtuin 1 ◽  
Obstetrics And Gynecology ◽  
Inflammatory Factor ◽  
Vitamin B2 ◽  
Magnesium Citrate ◽  
Fetal Malformations ◽  
Folate Cycle ◽  
Pro Inflammatory Cytokines

Low provision of cells with vitamin B2 and magnesium leads to a decrease in the activity of the sirtuin-1 deacetylase and an increase in the activity of the pro-inflammatory factor NF-kB, a decrease in the levels of glutathione, an increase in the levels of homocysteine, thrombus formation, the activity of mitochondria, the development of migraine, convulsions and miscarriage. The role of riboflavin in the regulation of the folate cycle in the genotype MTHFR 677TT for the prevention of folatresistant fetal malformations, the advantages of an aqueous solution of riboflavin and magnesium citrate is considered. The data on titanium dioxide, which increases the level of pro-inflammatory cytokines IL-1b, IL-4, IL-5, IL-6, G-CSF, CCL-2, CCL-3, CCL-4, are presented.

THE IMAGE OF AN ACTIVE WOMAN IN THE SPIRITUAL HERITAGE OF EASTERN THINKERS

2020 ◽  
Vol 7 (3) ◽  
pp. 97-105
Author(s):  
Feruza Davronova ◽  
Keyword(s):  
The State ◽  
Political Activity ◽  
Spiritual Values ◽  
Social Significance ◽  
Active Woman ◽  
State And Society ◽  
The Family

The purpose of this article is to study the image of socio-political activity of women, their role and importance in the life of the state and society.In this, we referred to the unique books of orientalists and studied their opinions and views on this topic. The article considers the socio-political activity of women, their role in the state and society, the role of the mother in the family and raising a child, oriental culture, national and spiritual values, traditions and social significance of women

Biological Role of CDK 11 and 12 in Cell Cycle and its Function in Tumorigenesis

2020 ◽  
Author(s):  
Shamim Mushtaq
Keyword(s):  
Breast Cancer ◽  
Cell Cycle ◽  
Web Of Science ◽  
The Body ◽  
Main Role ◽  
Hallmarks Of Cancer ◽  
Cyclin Dependent Kinases ◽  
Tumor Studies ◽  
Cycle Regulation

Uninhibited proliferation and abnormal cell cycle regulation are the hallmarks of cancer. The main role of cyclin dependent kinases is to regulate the cell cycle and cell proliferation. These protein kinases are frequently down regulated or up regulated in various cancers. Two CDK family members, CDK 11 and 12, have contradicting views about their roles in different cancers. For example, one study suggests that the CDK 11 isoforms, p58, inhibits growth of breast cancer whereas, the CDK 11 isoform, p110, is highly expressed in breast tumor. Studies regarding CDK 12 show variation of opinion towards different parts of the body, however there is a consensus that upregulation of cdk12 increases the risk of breast cancer. Hence, CDK 11 and CDK 12 need to be analyzed to confirm their mechanism and their role regarding therapeutics, prognostic value, and ethnicity in cancer. This article gives an outline on both CDKs of information known up to date from Medline, PubMed, Google Scholar and Web of Science search engines, which were explored and thirty relevant researches were finalized.

scholarly journals The Role of Chemotherapy in Management of Inoperable, Metastatic and/or Recurrent Melanotic Neuroectodermal Tumor of Infancy—Own Experience and Systematic Review

Cancers ◽  
2021 ◽  
Vol 13 (15) ◽  
pp. 3872
Author(s):  
Małgorzata Styczewska ◽  
Małgorzata A. Krawczyk ◽  
Ines B. Brecht ◽  
Konrad Haug ◽  
Ewa Iżycka-Świeszewska ◽  
...  
Keyword(s):  
Systematic Review ◽  
Pediatric Oncology ◽  
Literature Search ◽  
Web Of Science ◽  
Poor Response ◽  
Neuroectodermal Tumor ◽  
Incomplete Resection ◽  
Systematic Literature Search ◽  
Neural Crest Origin

Melanotic Neuroectodermal Tumor of Infancy (MNTI) is a very rare pediatric neoplasm of neural crest origin. In most cases, it develops in infants as a localized tumor of the maxilla, and surgery is usually curative. In less than 10% of patients with inoperable, metastatic or persistently recurring MNTI, chemotherapy (CHT) may be considered; however, its role is still unclear. The aim of our study was to assess the efficacy of CHT in children with large, inoperable, metastatic and/or recurrent MNTI. Four such infants, treated with CHT in Polish and German centers of pediatric oncology, were presented. Additionally, a systematic literature search of the PubMed/MEDLINE, Scopus and Web of Science databases was performed, yielding 38 similar cases within the last 42 years. Neoadjuvant CHT, based mainly on the protocols for neuroblastoma, was often effective, allowing for complete delayed surgery in most cases. However, the role of adjuvant CHT in preventing recurrences after incomplete resection of MNTI remains unclear. Disseminated inoperable MNTI was almost universally associated with poor response to CHT and unfavorable outcome. Further investigations to elaborate standards of management in patients with inoperable, metastatic or persistently recurring MNTIs are necessary to improve outcomes.

Methylenetetrahydrofolate reductase polymorphisms as risk factors for retinal venous occlusive disease: A literature review

2021 ◽  
pp. 112067212110006
Author(s):  
Manuel Marques ◽  
Francisco Alves ◽  
Miguel Leitão ◽  
Catarina Rodrigues ◽  
Joana Tavares Ferreira
Keyword(s):  
Risk Factors ◽  
Literature Review ◽  
Methylenetetrahydrofolate Reductase ◽  
Mthfr C677t ◽  
Mthfr Gene ◽  
Mthfr Polymorphisms ◽  
Vein Occlusion ◽  
C677t Mutation ◽  
Retinal Vascular Disease

The role of polymorphisms of methylenetetrahydrofolate reductase (MTHFR) gene in retinal vein occlusion (RVO) is a theme of discussion since the first reports of RVO in patients with MTHFR C677T mutation and without classic acquired risk factors for retinal vascular disease. The association between MTHFR polymorphisms and RVO has been studied over the last 20 years producing conflicting results. This review aims to summarize the literature concerning the role MTHFR polymorphisms as risk factors for RVO.

Ecological Synthesis and Its Role in Advancing Knowledge

BioScience ◽  
2020 ◽  
Author(s):  
Benjamin S Halpern ◽  
Eric Berlow ◽  
Rich Williams ◽  
Elizabeth T Borer ◽  
Frank W Davis ◽  
...  
Keyword(s):  
Web Of Science ◽  
Ecological Knowledge ◽  
Ecological Analysis ◽  
Widespread Application ◽  
Ecological Literature ◽  
Research Themes ◽  
Analysis And Synthesis ◽  
Core Questions

Abstract Synthesis has become ubiquitous in ecology. Despite its widespread application to a broad range of research topics, it remains unclear how synthesis has affected the discipline. Using a case study of publications (n = 2304) from the National Center for Ecological Analysis and Synthesis compared with papers with similar keywords from the Web of Science (n = 320,000), we address several questions about the comparative impact of synthesis, the role of synthesis in driving key research themes, and whether synthesis is focused on different topics than is the broader ecological literature. We found much higher citation rates for synthesis papers overall (fivefold more) and within eleven key topic themes (e.g., species richness, biodiversity, climate change, global change). Synthesis papers often played key roles in driving, redirecting, or resolving core questions and exhibited much greater cross-theme connectivity. Together, these results indicate that synthesis in science has played a crucial role in accelerating and advancing ecological knowledge.

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