Role of mutations in MTHFR gene and hyperhomocysteinemia in occurrence of ischemic stroke

2021 ◽  
pp. 41-46
Author(s):  
K. B. Manysheva ◽  
B. A. Abusueva ◽  
Z. R. Umakhanova
Keyword(s):  
Folic Acid ◽  
Hemorrhagic Stroke ◽  
Mthfr Gene ◽  
B Vitamins ◽  
Cerebral Stroke ◽  
Allelic Variants ◽  
Research Issues ◽  
Serum Homocysteine ◽  
The Relationship

The objective of the study is review and analyze scientific publications devoted to the problems of stroke, its relationship with the most common mutations in the MTHFR gene and their individual allelic variants and serum homocysteine levels.Materials and methods. Analyzing foreign and domestic publications, the relationship of the strongest mutations in the MTHFR gene with an increase in the level of serum homocysteine, which is a predictor of the development of vascular accidents, including acute circulatory disorders of the brain, was revealed.Results. Stroke is a socially significant disease. All risk factors for acute cerebral stroke are subdivided into modifiable and non-modifiable. To a non-modifiable factor that predisposes to the development of ischemic and hemorrhagic stroke, hereditary factors, including genetic mutations in a number of genes. MTHFR is a genome carrying individual allelic variants that can affect the level of homocysteine in blood serum, causing it to increase, and hyperhomocysteinemia, according to a number of studies, is a likely predictor of diseases of the cardiovascular system, including severe cerebrovascular accidents. At the same time, a large number of studies use the services of the protective role of reducing the elevated level of serum homocysteine using various forms of folic acid and B vitamins. The authors of the article attempted to process, analyze and summarize the data of modern research issues on the topic under consideration.Conclusions. The relationship between the occurrence of ischemic and hemorrhagic stroke and the most common mutations in the MTHFR gene has been revealed. Hyperhomocysteinemia, separate and developing as a result of these mutations, is an independent risk factor for the development of acute cerebral ischemia. Normalization of elevated serum homocysteine levels is required for all patients as stroke prevention, and includes not only the use of foods enriched with folic acid, but also pharmacological correction of folates and B vitamins.

Role of Ten Dietary Vitamins on Fecundity of the Parasitoid Exeristes comstockii (Cresson) (Hymenoptera: Ichneumonidae)

1966 ◽  
Vol 98 (9) ◽  
pp. 918-922 ◽  
Author(s):  
G. K. Bracken
Keyword(s):  
Folic Acid ◽  
Egg Production ◽  
Ovarian Function ◽  
Galleria Mellonella ◽  
B Vitamins ◽  
Egg Viability

AbstractFeeding tests with the adults of Exeristes comstockii (Cress.) on chemically defined diets showed that, of ten B-vitamins omitted singly, only three, panthothenic acid, folic acid and thiamine, were needed for maximal egg production and maximal numbers of eggs contained in ovaries. Egg production on a diet with only these three vitamins was similar to that on a control with all B-vitamins, but egg viability was significantly lower. Addition of α-tocopherol did not increase fecundity or egg viability. Vitamin-starved females partly recovered ovarian function when fed tissues of Galleria mellonella L.

scholarly journals Homocysteine and psoriasis

2019 ◽  
Vol 39 (11) ◽  
Author(s):  
Xiran Lin ◽  
Xianmin Meng ◽  
Zhiqi Song
Keyword(s):  
Folic Acid ◽  
Vitamin B12 ◽  
Inflammatory Process ◽  
Nuclear Factor Kappa B ◽  
Protective Role ◽  
Complex Interplay ◽  
Potential Therapeutic Target ◽  
Serum Homocysteine ◽  
Pro Inflammatory Cytokines

Abstract Psoriasis is caused by a complex interplay among the immune system, genetic background, autoantigens, and environmental factors. Recent studies have demonstrated that patients with psoriasis have a significantly higher serum homocysteine (Hcy) level and a higher prevalence of hyperhomocysteinaemia (HHcy). Insufficiency of folic acid and vitamin B12 can be a cause of HHcy in psoriasis. Hcy may promote the immuno-inflammatory process in the pathogenesis of psoriasis by activating Th1 and Th17 cells and neutrophils, while suppressing regulatory T cells. Moreover, Hcy can drive the immuno-inflammatory process by enhancing the production of the pro-inflammatory cytokines in related to psoriasis. Hcy can induce nuclear factor kappa B activation, which is critical in the immunopathogenesis of psoriasis. There may be a link between the oxidative stress state in psoriasis and the effect of HHcy. Hydrogen sulfide (H2S) may play a protective role in the pathogenesis of psoriasis and the deficiency of H2S in psoriasis may be caused by HHcy. As the role of Hcy in the pathogenesis of psoriasis is most likely established, Hcy can be a potential therapeutic target for the treatment of psoriasis. Systemic folinate calcium, a folic acid derivative, and topical vitamin B12 have found to be effective in treating psoriasis.

scholarly journals Potential role of folic acid in preventing male infertility associated with MTHFR gene C677T (rs1801133) polymorphism

All Life ◽  
2021 ◽  
Vol 14 (1) ◽  
pp. 730-743
Author(s):  
Fahad A. Alhumaydhi ◽  
Amal M. H. Mackawy ◽  
Enas N. Morgan ◽  
Waleed Al Abdulmonem ◽  
Suliman A. Alsagaby ◽  
...  
Keyword(s):  
Folic Acid ◽  
Male Infertility ◽  
Potential Role ◽  
Mthfr Gene

scholarly journals The assessment of the efficiency of 5-methyltethydrofolate according to level by homocysteine, methionine and betaine in pregnant women with polymorphism rs 1801133 (677 C> T) of the MTHFR gene

2020 ◽  
Vol 24 (4) ◽  
pp. 618-623
Author(s):  
O. B. Lastovetska ◽  
O. V. Bulavenko
Keyword(s):  
Folic Acid ◽  
Pregnant Women ◽  
Mthfr Gene ◽  
Folate Metabolism ◽  
Reproductive Age ◽  
Third Trimester ◽  
The Third ◽  
Serum Homocysteine ◽  
Significant Difference

Annotation. The prevention of early pregnancy loss, taking into account the polymorphism of the genes of enzymes that controlling folate metabolism, have become the goal of clinical studies in recent years, and the determination of risk factors for patients of late reproductive age and embryonic losses in history becomes critical for the development of effective measures to prevent miscarriage. The use of medical prevention of perinatal pathology using a biologically active form of folate in the form of 5-methyltetrahydrofolate in women with anamnestic loss of pregnancy looks promising. The aim of the study was to evaluate the effectiveness of drug prevention in patients with anamnestic embryonic losses, taking into account the role of the rs1801133 (677 C>T) polymorphism of the MTHFR gene based on the results of the dynamics of serum levels of homocysteine, betaine, and methionine. The patients were divided into the main group (polymorphism rs1801133 (677 C>T) of the MTHFR gene and anamnestic embryonic loss), which was divided into 2 subgroups: I subgroup included 20 women who received folic acid preparations (400 μg per day), II subgroup – 20 patients who received a complex preparation containing 5-methyltetrahydrofolate and control groups (practically healthy women) (n=20). Prescribing drugs began at the pre-gravid stage 8–10 weeks before pregnancy planning, and the administration ended up to 26 weeks of pregnancy. Determination of serum homocysteine levels and markers of folate metabolism - methionine and betaine – were performed at the end of the 1st – beginning of the 2nd trimester of pregnancy and in the third trimester. In the study of the effectiveness of preventive therapy on the dynamics of markers of folate metabolism functionality in pregnant women of late reproductive age with anamnestic embryonic losses and polymorphism rs1801133 (677 C>T) of the MTHFR gene when using a combined drug containing folic acid and 5-methyltetrahydrofolate, at the first end – at the beginning In the second trimester, there was a significant increase in betaine and methionine (p<0.05), while in the third trimester, a positive statistically significant difference (p<0.05) was diagnosed in an increase in methionine, betaine and a decrease in serum homocysteine levels.

scholarly journals Biomarkers of Folate and Vitamin B12 Are Related in Blood and Cerebrospinal Fluid

2007 ◽  
Vol 53 (2) ◽  
pp. 326-333 ◽  
Author(s):  
Rima Obeid ◽  
Panagiotis Kostopoulos ◽  
Jean-Pierre Knapp ◽  
Mariz Kasoha ◽  
George Becker ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Cerebrospinal Fluid ◽  
Plasma Concentrations ◽  
B Vitamins ◽  
Serum Folate ◽  
Gas Chromatography Mass Spectrometry ◽  
Liquid Chromatography Tandem Mass ◽  
Folate And Vitamin B12 ◽  
The Relationship

Abstract Background: B-vitamins (folate, B12) are important micronutrients for brain function and essential cofactors for homocysteine (HCY) metabolism. Increased HCY has been related to neurological and psychiatric disorders. We studied the role of the B-vitamins in HCY metabolism in the brain. Methods: We studied blood and cerebrospinal fluid (CSF) samples from 72 patients who underwent lumbar puncture. We measured HCY, methylmalonic acid (MMA), and cystathionine by gas chromatography-mass spectrometry; S-adenosylmethionine (SAM) and S-adenosylhomocysteine (SAH) by liquid chromatography-tandem mass spectrometry; and the B-vitamins by HPLC or immunoassays. Results: Concentrations were lower in CSF than serum or plasma for HCY (0.09 vs 9.4 μmol/L), SAH (13.2 vs 16.8 nmol/L), cystathionine (54 vs 329 nmol/L), and holotranscobalamin (16 vs 63 pmol/L), whereas concentrations in CSF were higher for MMA (359 vs 186 nmol/L) and SAM (270 vs 113 nmol/L; all P &lt;0.05). CSF concentrations of HCY correlated significantly with CSF folate (r = −0.46), CSF SAH (r = 0.48), CSF-albumin (r = 0.31), and age (r = 0.32). Aging was also associated with lower concentrations of CSF-folate and higher CSF-SAH. The relationship between serum and CSF folate depended on serum folate: the correlation (r) of serum and CSF-folate was 0.69 at serum folate &lt;15.7 nmol/L. CSF concentrations of MMA and holotranscobalamin were not significantly correlated. Conclusions: CSF and serum/plasma concentrations of vitamin biomarkers are significantly correlated. Older age is associated with higher CSF-HCY and CSF-SAH and lower CSF-folate. These metabolic alterations may be important indicators of low folate status, hyperhomocysteinemia, and neurodegenerative diseases.

scholarly journals Role of Nutritional Supplementation with Vitamin B12 and Folic Acid on Serum Homocysteine Levels of Deep Vein Thrombosis

2018 ◽  
Vol 4 (2) ◽  
pp. 232-235
Author(s):  
Simmi Kharb ◽  
Khandelwal A ◽  
Singh K ◽  
Vashist MG
Keyword(s):  
Deep Vein Thrombosis ◽  
Folic Acid ◽  
Vitamin B12 ◽  
Clinical Features ◽  
Control Group ◽  
Study Group ◽  
Vein Thrombosis ◽  
Serum Homocysteine ◽  
Deep Vein

Deep vein thrombosis is a common vascular disorder and association of Homocysteine with DVT is known. Evidence of decrease B12 and folic acid levels in DVT with Hyperhomocysteinemia has also been reported. Scanty data is available regarding role of folate and vitamin B12 on Homocysteine levels in DVT patients. The present study was undertaken in 100 patients. Study group comprised of 50 patients who had clinical features suggestive of DVT and 50 patients, who did not have clinical features suggestive of any venous or arterial disorder, were labelled as control group. All the patients of study group were given vitamin B12 and folic acid treatment along with standard treatment of DVT. Serum Homocysteine, folate, vitamin B12 were measured in all the patients in both the groups and estimated by chemiluminescence technology. After 12 weeks of vitamin B12 and folic acid therapy, serum Homocysteine levels, folic acid levels and vitamin B12 levels of study group were again estimated. The collected records and data was analysed statistically by Student t-test and Chi-square test. Mean Homocysteine level in study group was significantly higher as compared to control group (19.63 ± 19.14 µmol/mL vs. 7.0 ± 4.94 µmol/mL). Mean Homocysteine levels before treatment were 19.63 ± 19.14 µmol/mL and after treatment they were significantly reduced. Hyperhomocysteinemia is a risk factor for deep vein thrombosis. Folic acid and B12 therapy reduced the level of Homocysteine suggesting that this may decrease the chances of recurrence of DVT.

scholarly journals Role of hematinic and zinc deficiencies in recurrent aphthous stomatitis: A Review

2021 ◽  
Vol 5 (2) ◽  
pp. 85-88
Author(s):  
Yuli Fatzia OSSA
Keyword(s):  
Folic Acid ◽  
Human Body ◽  
Essential Role ◽  
Oral Lesion ◽  
Recurrent Aphthous Stomatitis ◽  
Aphthous Stomatitis ◽  
Clinical Appearance ◽  
Main Components ◽  
The Relationship

Hematinic has an essential role in the human body. Suppose its deficiency can cause oral disorders such as aphthous stomatitis. Recurrent aphthous stomatitis is the most common oral lesion. It has three types of clinical appearance, namely minor, central, and herpetiform. The main components of hematinic are folate, vitamin B12, folic acid. Apart from hematinic, another nutrient that can correlate with recurrent aphthous stomatitis is zinc. This review explains the relationship between hematinic deficiency and zinc associated with recurrent aphthous stomatitis.

Schizophrenia and folate pharmacogenetics: Review of the literature regarding folic acid and its pharmacogenetically regulated metabolism in relation to schizophrenia treatments

2012 ◽  
Vol 1 (9) ◽  
pp. 225-229 ◽  
Author(s):  
Andrew Wechter ◽  
Kristen N. Gardner ◽  
Tyler B. Grove ◽  
Vicki L. Ellingrod
Keyword(s):  
Metabolic Syndrome ◽  
Folic Acid ◽  
Methylenetetrahydrofolate Reductase ◽  
Mthfr Gene ◽  
Gene Variants ◽  
Cognitive Symptoms ◽  
Review Of The Literature ◽  
Dietary Folate ◽  
The Relationship

Folic acid and its metabolism and utilization has become of increasing importance within the field of schizophrenia. Methylenetetrahydrofolate reductase (MTHFR) is the enzyme responsible for the formation of methyltetrahydrofolate (5-methyl THF) from dietary folate. Multiple studies have demonstrated relationships between MTHFR gene variants and schizophrenia. This review discusses these studies, and their findings regarding the relationship between different variants of the MTHFR gene and risk of antipsychotic-related metabolic syndrome, and the relationship between the pharmacogenetics of folate and the negative/cognitive symptoms of schizophrenia.

Choosing a Markov blanket

2020 ◽  
Vol 43 ◽  
Author(s):  
Thomas Parr
Keyword(s):  
Markov Blanket ◽  
Target Article ◽  
The Relationship

Abstract This commentary focuses upon the relationship between two themes in the target article: the ways in which a Markov blanket may be defined and the role of precision and salience in mediating the interactions between what is internal and external to a system. These each rest upon the different perspectives we might take while “choosing” a Markov blanket.

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