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Depression, Anxiety, Stress, and Spirituality in Cardiovascular Disease
Published in Stephen T. Sinatra, Mark C. Houston, Nutritional and Integrative Strategies in Cardiovascular Medicine, 2022
Erminia Guarneri, Shyamia Stone
Folic acid in doses of 500 mcg has been found to improve depression symptoms when added to an SSRI.121 Folic acid supplementation has been the subject of much nutritional research due to its varying bioavailability in certain forms based upon genetic polymorphisms. If an individual has a heterozygous or homozygous mutation at the methylenetetrahydrofolate reductase (MTHFR) gene, it suggests an inability to methylate B-vitamins, thus requiring supplementation with forms of B-vitamins that are already methylated, specifically L-methylfolate and methylcobalamin.122 The MTHFR C677T polymorphism has also been associated with increased risk of depression,122,123 as well as cardiovascular risk factors such as increased blood pressure.124 Currently, there are no studies linking MTHFR polymorphism to anxiety; however, there are other related polymorphisms that should be taken into consideration, such as catechol-o-methyltransferase (COMT). A COMT polymorphism, especially at the met158 allele, is linked to higher anxiety levels,125,126 indicating an over-active methylation pathway. In these patient’s supplementation with B-vitamins, particularly methylfolate may cause anxiety. Subsequently, it is recommended that a patient’s MTHFR polymorphisms are tested, and they are supplemented according to their need for 5-methyltetrahydrofolate (L-methylfolate or 5-MTHF) or folinic acid.
Inherited Thrombophilia
Published in Vincenzo Berghella, Maternal-Fetal Evidence Based Guidelines, 2022
The most common form of genetic hyper-homocysteinemia results from the production of a thermolabile variant of methylenetetrahydrofolate reductase (MTHFR) with reduced enzymatic activity (T mutation) [28]. The gene encoding for this variant contains an alanine-to-valine substitution at amino acid 677 (C677T) [29]. The responsible mutation is common, with a population frequency for homozygosity estimated between 5% and 14% [30, 31]. A MTHFR polymorphism at A1298C is less common. Homozygosity for the thermolabile variant of MTHFR (TT genotype) is a relatively common cause of mildly elevated plasma homocysteine levels in the general population, often occurring in association with low serum folate levels [32, 33]. Increased blood levels of homocysteine may reflect deficiency of folate, vitamin B6, and/or vitamin B12 [34–37]. Plasma folate and B12 levels, in particular, are strong determinants of the homocysteine concentration. Homocysteine levels are inversely related to folate consumption, reaching a stable baseline level when folate intake exceeds 400 mg/day [38, 39]. Vitamin B6 is a weaker determinant [39]. Isolated MTHFR mutations (in the setting of normal homocysteine levels) are not associated with increased risk of VTE, and therefore, should not be categorized as thrombophilias [11, 40, 41].
Neurogenic Lower Urinary Tract and Sexual Dysfunction
Published in Karl H. Pang, Nadir I. Osman, James W.F. Catto, Christopher R. Chapple, Basic Urological Sciences, 2021
Karl H. Pang, Nadir I. Osman, Altaf Mangera
Cause: failure of neural tube closure.Folate deficiencyMutation of 5,10-Methylenetetrahydrofolate reductase gene
MTHFR Polymorphisms in Girls with Anorexia Nervosa: Implications on Body Weight
Published in Endocrine Research, 2021
Areti Augoulea, Eleni Armeni, Evangelia Deligeoroglou, Stavroula A. Paschou, Georgios Papadimitriou, Evgenia Stergioti, Vassilios Karountzos, Artemis Tsitsika, Konstantinos Panoulis, Emmanuel Economou, Irene Lambrinoudaki
Among the risk factors which influence body weight in women with AN,3 the genetic background has received limited attention only.9,10 Recent data indicated a possible link between specific single nucleotide polymorphisms (SNPs) of the methylenetetrahydrofolate reductase gene (MTHFR) and body weight or fat mass in obese individuals.11 Further data support an association between the presence of the MTHFΡ C677T polymorphic variant and the development of cardiovascular disease, carotid atherosclerosis and mental health disorders in the general population.11,12 Others, however, have not corroborated the association between the C677T MTHFR polymorphism and obesity.13 In this context, the evaluation of SNPs as potential determinants of the development of atypical vs typical AN and related clinical features seems rational.
Role of folinic acid in methotrexate-based prophylaxis of graft-versus-host disease following hematopoietic stem cell transplantation
Published in Hematology, 2021
One interesting aspect of transplant medicine is the possibility of tailoring medication to suit an individual. The prevalence of methylenetetrahydrofolate reductase (MTHFR) polymorphisms is estimated to be approximately 0.2% to 0.5%, although it varies by region. As reported by Murphy et al. [15], genetic analysis might serve as a useful tool for identifying patients who are eligible for FA rescue. By comparing single nucleotide polymorphisms (SNPs) in MTHFR in donors and recipients, patients who received a transplant with the 677CT SNP were recognized to have increased susceptibility to a longer total duration of mucositis following FA administration (Table 1). As further discussed below, transplant MTHFR SNPs affect the response to FA via several mechanisms that are worth considering before the administration of FA.
Unilateral nonhaemorrhagic adrenal infarction as a cause of abdominal pain during pregnancy
Published in Gynecological Endocrinology, 2019
F. Chasseloup, N. Bourcigaux, S. Christin-Maitre
Only two patients from the literature required a cesarean section due to inadequate pain management. Anticoagulation therapy was introduced in most patients even without any proof of thrombosis. As the physiopathology of adrenal infarction and hemorrhage is not clear, anticoagulation therapy should be discussed depending on bleeding risk. A case reported of sequential right then left adrenal thrombosis illustrates the importance of anticoagulation therapy to prevent further thrombotic events [3]. In this respect, it is important that all patients be screened for thrombophilia because of potential spontaneous thrombosis. Three patients were found to have increased factor VIII activity which has been associated with deep venous thrombosis [19]. One case had a factor V Leiden mutation explaining thrombosis [19]. However, one patient was found to have a heterozygous C677T polymorphism in the gene encoding Methylenetetrahydrofolate reductase (MTHFR) which has been associated with increased levels of homocysteine. Its association with deep venous thrombosis however is still controversial [20,21].