keyword
https://read.qxmd.com/read/38175236/role-of-folic-acid-in-regulating-gut-microbiota-and-short-chain-fatty-acids-based-on-an-in-vitro-fermentation-model
#1
JOURNAL ARTICLE
Xiaogu Zheng, Chenlan Xia, Manman Liu, Hongchen Wu, Jiaqian Yan, Zihao Zhang, Yingjie Huang, Qing Gu, Ping Li
Folic acid deficiency is common worldwide and is linked to an imbalance in gut microbiota. However, based on model animals used to study the utilization of folic acid by gut microbes, there are challenges of reproducibility and individual differences. In this study, an in vitro fecal slurry culture model of folic acid deficiency was established to investigate the effects of supplementation with 5-methyltetrahydrofolate (MTHF) and non-reduced folic acid (FA) on the modulation of gut microbiota. 16S rRNA sequencing results revealed that both FA (29...
December 2024: Applied Microbiology and Biotechnology
https://read.qxmd.com/read/38058766/cyp2u1-an-emerging-treatable-neurometabolic-disease-with-cerebral-folate-deficiency-in-2-chinese-brothers
#2
Sheila Suet-Na Wong, Liz Yuet-Ping Yuen, Elaine Kan, Nenad Blau, Richard Rodenburg, Ching-Wan Lam, Virginia Chun-Nei Wong, Fanny Mochel, Ron A Wevers, Cheuk-Wing Fung
With the rapid advancement of medical technologies in genomic and molecular medicine, the number of treatable neurometabolic diseases is quickly expanding. Spastic paraplegia 56 (SPG56), one of the severe autosomal recessive forms of neurodegenerative disorders caused by pathogenic variants in the CYP2U1 gene, has no reported specific targeted treatment yet. Here we report 2 Chinese brothers with CYP2U1 bi-allelic pathogenic variants with cerebral folate deficiency who were treated for over a decade with folinic acid supplement...
March 2024: Molecular Genetics and Metabolism Reports
https://read.qxmd.com/read/37819550/the-importance-of-preconception-hcy-testing-identification-of-a-folate-trap-syndrome-in-a-woman-attending-an-assisted-reproduction-program
#3
JOURNAL ARTICLE
Arthur Clément, Patrice Clément, Géraldine Viot, Yves J R Menezo
Methylation is a ubiquitous and permanent key biochemical process playing a major role in gametogenesis and embryogenesis in relation to epigenetics and imprinting. Methylation relies on a unique cofactor S-Adenosyl Methionine: SAM. Release of the methyl group onto target molecules is followed by liberation of S-Adenosyl Homocysteine (SAH), and then homocysteine (Hcy), both potent inhibitors of the methylation process. Defective recycling of homocysteine, leading to Hyperhomocysteinemia, is mainly due to reduced activity of MTHFR (Methylene TetraHydroFolate Reductase)...
October 11, 2023: Journal of Assisted Reproduction and Genetics
https://read.qxmd.com/read/37101857/cerebral-folate-deficiency-a-report-of-two-affected-siblings
#4
Rabah Almahmoud, Mohammed Mekki, Ayman W El-Hattab
Cerebral folate deficiency (CFD) is a rare progressive neurological condition characterized by normal blood folate level and low 5-methyltetrahydrofolate (5-MTHF) levels in the cerebrospinal fluid. Patients present with different neurological findings including hypotonia and microcephaly. Later, patients develop ataxia, seizures, para or quadri-plagia. Herein, we report two siblings; born to consanguineous parents; who had normal neurological development in early childhood. Subsequently they developed drug-resistant seizures, neurological regression, and spastic quadriplegia...
June 2023: Molecular Genetics and Metabolism Reports
https://read.qxmd.com/read/36966985/endothelial-cell-vasodilator-dysfunction-mediates-progressive-pregnancy-induced-hypertension-in-endothelial-cell-tetrahydrobiopterin-deficient-mice
#5
JOURNAL ARTICLE
Surawee Chuaiphichai, Yasmin Dickinson, Christopher A R Whiteman, Desson Au-Yenung, Eileen McNeill, Keith M Channon, Gillian Douglas
BACKGROUND AND PURPOSE: Pregnancy-associated vascular remodelling is essential for both maternal and fetal health. We have previously shown that maternal endothelial cell tetrahydrobiopterin (BH4) deficiency causes poor pregnancy outcomes. Here, we investigated the role and mechanisms of endothelial cell-mediated vasorelaxation function in these outcomes. EXPERIMENTAL APPROACH: The vascular reactivity of mouse aortas and uterine arteries from non-pregnant and pregnant endothelial cell-specific BH4 deficient mice (Gch1fl/fl Tie2cre mice) was assessed by wire myography...
March 24, 2023: Vascular Pharmacology
https://read.qxmd.com/read/36598177/mild-aromatic-l-amino-acid-decarboxylase-deficiency-as-a-reason-for-hypoketotic-hypoglycemia-in-a-4-year-old-girl
#6
JOURNAL ARTICLE
Merve Yoldas Celik, Ebru Canda, Havva Yazici, Fehime Erdem, Ayse Yuksel Yanbolu, Ayca Aykut, Asude Durmaz, Ahmet Anik, Sema Kalkan Ucar, Mahmut Coker
Aromatic L-amino acid decarboxylase (AADC) deficiency is a disease in which neurological findings are dominant due to deficiencies in neurotransmitter synthesis; hypoglycemia caused by autonomic dysfunction is one of the symptoms that may be encountered. Here we report a mild AADC deficiency presenting with hypoglycemia without a neurological sign. A 4-year-old girl presented with recurrent hypoglycemia. Her growth and development were normal. Plasma insulin and cortisol values were normal in the sample at the time of hypoglycemia...
January 4, 2023: Journal of Clinical Research in Pediatric Endocrinology
https://read.qxmd.com/read/36127600/quantitation-of-5-methyltetrahydrofolate-in-cerebrospinal-fluid-using-liquid-chromatography-electrospray-tandem-mass-spectrometry
#7
JOURNAL ARTICLE
Erland Arning, Brandi Wasek, Teodoro Bottiglieri
We describe a simple stable isotope dilution method for accurate and precise measurement of cerebrospinal fluid (CSF) 5-methyltetrahydrofolate (5-MTHF) as a clinical diagnostic test. 5-MTHF is the main biologically active form of folate and is involved in the regulation of homocysteine and numerous methylation reactions, including synthesis of neurotransmitters, lipids, DNA, and RNA. Measurement of 5-MTHF in CSF provides diagnostic information regarding disorders affecting folate metabolism within the central nervous system, in particular inborn errors of folate metabolism and cerebral folate deficiency...
2022: Methods in Molecular Biology
https://read.qxmd.com/read/35745126/absorption-and-tissue-distribution-of-folate-forms-in-rats-indications-for-specific-folate-form-supplementation-during-pregnancy
#8
JOURNAL ARTICLE
Natasha Bobrowski-Khoury, Jeffrey M Sequeira, Erland Arning, Teodoro Bottiglieri, Edward V Quadros
Food fortification and folic acid supplementation during pregnancy have been implemented as strategies to prevent fetal malformations during pregnancy. However, with the emergence of conditions where folate metabolism and transport are disrupted, such as folate receptor alpha autoantibody (FRαAb)-induced folate deficiency, it is critical to find a folate form that is effective and safe for pharmacologic dosing for prolonged periods. Therefore, in this study, we explored the absorption and tissue distribution of folic acid (PGA), 5-methyl-tetrahydrofolate (MTHF), l-folinic acid (levofolinate), and d,l-folinic acid (Leucovorin) in adult rats...
June 9, 2022: Nutrients
https://read.qxmd.com/read/35739943/5-methyltetrahydrofolate-attenuates-oxidative-stress-and-improves-kidney-function-in-acute-kidney-injury-through-activation-of-nrf2-and-antioxidant-defense
#9
JOURNAL ARTICLE
Charith U B Wijerathne, Kathy K W Au-Yeung, Yaw L Siow, Karmin O
Oxidative stress is a major mediator of adverse outcomes in acute kidney injury (AKI). Deficiency of micronutrients, such as folate, is common in AKI. Our previous study reported that AKI impaired kidney reabsorption of folate and decreased plasma folate level in rats. The present study investigated the effect of 5-methyltetrahydrofolate (5-MTHF), a biologically active form of folate/folic acid, on AKI-impaired kidney function and oxidative stress. Sprague-Dawley rats developed AKI after kidney ischemia (45 min) and reperfusion (24 h)...
May 25, 2022: Antioxidants (Basel, Switzerland)
https://read.qxmd.com/read/35691911/association-of-mthfr-677c-t-polymorphism-with-pregnancy-outcomes-in-ivf-icsi-et-recipients-with-adequate-synthetic-folic-acid-supplementation
#10
JOURNAL ARTICLE
Feijun Ye, Siwei Zhang, Qing Qi, Jing Zhou, Yan Du, Ling Wang
Methylenetetrahydrofolate reductase (MTHFR) genetic polymorphism rs1801133 (677C>T) will decrease the utilization of folate. Folate deficiency and its resulting homocysteine (HCY) accumulation can impair female fertility. Folic acid (FA) supplementation is necessary in pregnant women who are undergoing in-vitro fertilization (IVF)/intracytoplasmic sperm injection (ICSI) - embryo transfer (ET), and especially in women with MTHFR rs1801133 C-to-T mutations. At present, affordable and accessible synthetic FA is mainly used...
September 17, 2022: Bioscience Trends
https://read.qxmd.com/read/35653630/folate-supplementation-in-fertility-and-pregnancy-the-advantages-of-6s-5-methyltetrahydrofolate
#11
JOURNAL ARTICLE
Niccolò Miraglia, Elodie Dehay
Folate plays an essential role in the metabolic regulation of amino acids and nucleic acids, and in one-carbon metabolism. Folate must be obtained from the diet, and supplementation is strongly recommended in populations at risk for deficiency due to specific conditions. Folic acid is the synthetic form of the vitamin, usually incorporated into foods and supplements. In the body, it must be reduced into the bioactive folate derivative (6S)5-MTHF by cell metabolism. Folate deficiency is related to many health issues such as neurological disorders and can increase cardiovascular disease risk...
May 2022: Alternative Therapies in Health and Medicine
https://read.qxmd.com/read/34886014/5-methyltetrahydrofolate-and-vitamin-b12-supplementation-is-associated-with-clinical-pregnancy-and-live-birth-in-women-undergoing-assisted-reproductive-technology
#12
JOURNAL ARTICLE
Michela Cirillo, Rossella Fucci, Sara Rubini, Maria Elisabetta Coccia, Cinzia Fatini
The homocysteine pathway in the preconception period should be evaluated to highlight micronutrient deficiencies and warrants optimal multivitamin supplementation, before Assisted Reproduction, as preconception care. We conducted a retrospective study aimed at investigating the role of vitamin B complex (5-methyltetrahydrofolate, vitamin B12, vitamin B6) supplement use compared with the role of only folic acid supplement use, in relation to clinical pregnancy and live birth in infertile women undergoing homologous ART...
November 23, 2021: International Journal of Environmental Research and Public Health
https://read.qxmd.com/read/34834493/cerebral-folate-deficiency-folate-receptor-alpha-autoantibodies-and-leucovorin-folinic-acid-treatment-in-autism-spectrum-disorders-a-systematic-review-and-meta-analysis
#13
REVIEW
Daniel A Rossignol, Richard E Frye
The cerebral folate receptor alpha (FRα) transports 5-methyltetrahydrofolate (5-MTHF) into the brain; low 5-MTHF in the brain causes cerebral folate deficiency (CFD). CFD has been associated with autism spectrum disorders (ASD) and is treated with d,l -leucovorin (folinic acid). One cause of CFD is an autoantibody that interferes with the function of the FRα. FRα autoantibodies (FRAAs) have been reported in ASD. A systematic review was performed to identify studies reporting FRAAs in association with ASD, or the use of d,l -leucovorin in the treatment of ASD...
November 3, 2021: Journal of Personalized Medicine
https://read.qxmd.com/read/34829516/crif1-deficiency-increased-homocysteine-production-by-disrupting-dihydrofolate-reductase-expression-in-vascular-endothelial-cells
#14
JOURNAL ARTICLE
Ikjun Lee, Shuyu Piao, Seonhee Kim, Harsha Nagar, Su-Jeong Choi, Byeong Hwa Jeon, Sang-Ha Oh, Kaikobad Irani, Cuk-Seong Kim
Elevated plasma homocysteine levels can induce vascular endothelial dysfunction; however, the mechanisms regulating homocysteine metabolism in impaired endothelial cells are currently unclear. In this study, we deleted the essential mitoribosomal gene CR6 interacting factor 1 (CRIF1) in human umbilical vein endothelial cells (HUVECs) and mice to induce endothelial cell dysfunction; then, we monitored homocysteine accumulation. We found that CRIF1 downregulation caused significant increases in intracellular and plasma concentrations of homocysteine, which were associated with decreased levels of folate cycle intermediates such as 5-methyltetrahydrofolate (MTHF) and tetrahydrofolate (THF)...
October 20, 2021: Antioxidants (Basel, Switzerland)
https://read.qxmd.com/read/34665710/rescuing-effect-of-folates-on-methotrexate-cytotoxicity-in-human-trophoblast-cells
#15
JOURNAL ARTICLE
Amin Ravaei, Michele Rubini
OBJECTIVES: Methotrexate (MTX)is a folate antagonist that is administered in several conditions such as rheumatoid arthritis. Its use may associate with adverse effects presumably originating from folate deficiency. Although MTX side effects could be decreased by folate supplementation, the current guideline on folate administration is not precisely established, which could result in irreversible damage especially in high-risk groups like women in childbearing-age. Thus, this study aimed to investigate the in vitro rescuing effect of different folates including folic acid (FA), 5-methyltetrahydrofolate (MTHF) and folinic acid (5-Formyltetrahydrofolic acid, FTHF) on MTX-treated trophoblast cells...
October 19, 2021: Clinical and Experimental Rheumatology
https://read.qxmd.com/read/34456246/skin-pigmentation-and-vitamin-d-folate-interactions-in-vascular-function-an-update
#16
REVIEW
S Tony Wolf, W Larry Kenney
PURPOSE OF REVIEW: Vitamin D and folate promote vascular endothelial health and may therefore help mitigate the development of cardiovascular disease (CVD). Ultraviolet radiation (UVR) exposure stimulates cutaneous vitamin D synthesis but degrades the bioactive metabolite of folate, 5-methyltetrahydrofolate (5-MTHF). Skin melanin absorbs UVR, thereby modulating the impact of UVR exposure on vitamin D and 5-MTHF metabolism. This review presents recent findings regarding the inter-relations among UVR, skin pigmentation, folate and vitamin D, and endothelial function...
November 1, 2021: Current Opinion in Clinical Nutrition and Metabolic Care
https://read.qxmd.com/read/34167037/homocysteine-vitamin-b-status-and-mthfr-polymorphisms-in-italian-infertile-women
#17
JOURNAL ARTICLE
Michela Cirillo, Maria Elisabetta Coccia, Monica Attanasio, Cinzia Fatini
OBJECTIVE: The purpose of this study was to evaluate the vitamin B status related to the homocysteine pathway and the prevalence of polymorphisms of the MTHFR gene in infertile women programming homologous or heterologous ART. STUDY DESIGN: We investigated 393 consecutive Caucasian women, referred to the Internal Medicine Clinic at the Center for Assisted Reproductive Technology, in order to be framed for their vascular risk before starting homologous or heterologous (oocyte donation) procedures...
August 2021: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://read.qxmd.com/read/34063091/periconceptional-folate-supplementation-in-women-after-bariatric-surgery-a-narrative-review
#18
REVIEW
An-Katrien Vynckier, Dries Ceulemans, Greet Vanheule, Paulien De Mulder, Mieke Van Den Driessche, Roland Devlieger
The prevalence of obesity is increasing globally, and along with it, there is a growing number of patients opting to undergo bariatric surgery to treat this condition. Whilst it has many advantages, bariatric surgery is known to induce micronutrient deficiency, with possible deleterious effects on overall health. This topic becomes even more relevant during pregnancy, where deficiencies can also affect the developing fetus, possibly being the cause of an increase in congenital anomalies. Most notably amongst these micronutrients is folate, or vitamin B9, which plays an essential role in development, gene expression and genomic stability...
May 5, 2021: Nutrients
https://read.qxmd.com/read/33979761/potential-role-of-folate-status-on-pulmonary-function-in-pediatric-asthma
#19
JOURNAL ARTICLE
Maria Michelle Papamichael, Charis Katsardis, Dimitris Tsoukalas, Katrina Lambert, Bircan Erbas, Catherine Itsiopoulos
OBJECTIVE: The aim of this study was to explore the relationship between plasma folate status and measures of airway disease (as reflected by spirometry) in children with asthma on a traditional Mediterranean diet. We hypothesized that folate deficiency is associated with lung function impairment in this group of children. METHODS: This cross-sectional study included 64 children with mild asthma (52% boys, mean age 8 ± 2 y) residing in Athens, Greece. Clinical assessments included spirometry and fractional exhaled nitric oxide (FeNO)...
October 2021: Nutrition
https://read.qxmd.com/read/33294225/oxidative-stress-folate-receptor-autoimmunity-and-csf-findings-in-severe-infantile-autism
#20
JOURNAL ARTICLE
Vincent T Ramaekers, Jeffrey M Sequeira, Beat Thöny, Edward V Quadros
BACKGROUND: Biomarkers such as oxidative stress, folate receptor alpha (FR α ) autoimmunity, and abnormal brain serotonin turnover are common in autism. METHODS: Oxidative stress biomarkers with pro- and antioxidants were measured in the severe form of infantile autism ( n  = 38) and controls ( n  = 24). Children and parents had repeated testing for serum FR autoantibodies, spinal fluid dopamine and serotonin metabolites, pterins, and N5 -methyltetrahydrofolate (MTHF)...
2020: Autism Research and Treatment
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