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https://www.readbyqxmd.com/read/27924000/folate-deficiency-facilitates-recruitment-of-upstream-binding-factor-to-hot-spots-of-dna-double-strand-breaks-of-rrna-genes-and-promotes-its-transcription
#1
Qiu Xie, Caihua Li, Xiaozhen Song, Lihua Wu, Qian Jiang, Zhiyong Qiu, Haiyan Cao, Kaihui Yu, Chunlei Wan, Jianting Li, Feng Yang, Zebing Huang, Bo Niu, Zhengwen Jiang, Ting Zhang
The biogenesis of ribosomes in vivo is an essential process for cellular functions. Transcription of ribosomal RNA (rRNA) genes is the rate-limiting step in ribosome biogenesis controlled by environmental conditions. Here, we investigated the role of folate antagonist on changes of DNA double-strand breaks (DSBs) landscape in mouse embryonic stem cells. A significant DSB enhancement was detected in the genome of these cells and a large majority of these DSBs were found in rRNA genes. Furthermore, spontaneous DSBs in cells under folate deficiency conditions were located exclusively within the rRNA gene units, representing a H3K4me1 hallmark...
December 6, 2016: Nucleic Acids Research
https://www.readbyqxmd.com/read/27916927/vitamin-b12-status-among-pregnant-women-in-the-uk-and-its-association-with-obesity-and-gestational-diabetes
#2
Nithya Sukumar, Hema Venkataraman, Sean Wilson, Ilona Goljan, Selvin Selvamoni, Vinod Patel, Ponnusamy Saravanan
BACKGROUND: To evaluate vitamin B12 and folate status in pregnancy and their relationship with maternal obesity, gestational diabetes mellitus (GDM), and offspring birthweight. METHODS: A retrospective case-control study of 344 women (143 GDM, 201 no-GDM) attending a district general hospital and that had B12 and folate levels measured in the early 3rd trimester was performed. Maternal history including early pregnancy body mass index (BMI) and neonatal data (birthweight, sex, and gestational age) was recorded for all subjects...
December 1, 2016: Nutrients
https://www.readbyqxmd.com/read/27913567/drug-repositioning-screens-identify-triamterene-as-a-selective-drug-for-the-treatment-of-dna-mismatch-repair-deficient-cells
#3
Delphine Guillotin, Philip Austin, Rumena Begum, Marta O Freitas, Ashirwad Merve, Tim Brend, Susan C Short, Silvia Marino, Sarah A Martin
PURPOSE: The DNA Mismatch repair (MMR) pathway is required for the maintenance of genome stability. Unsurprisingly, mutations in MMR genes occur in a wide range of different cancers. Studies thus far have largely focused on specific tumor types or MMR mutations, however it is becoming increasingly clear that a therapy targeting MMR-deficiency in general would be clinically very beneficial. EXPERIMENTAL DESIGN: Based on a drug-repositioning approach, we screened a large panel of cell lines with various MMR deficiencies from a range of different tumor types with a compound drug library of previously approved drugs...
December 2, 2016: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/27906622/sensitive-liquid-chromatography-mass-spectrometry-lc-ms-assay-reveals-novel-insights-on-dna-methylation-and-incorporation-of-gemcitabine-its-metabolite-difluorodeoxyuridine-deoxyuridine-and-rx-3117-into-dna
#4
Richard J Honeywell, Dzjemma Sarkisjan, Ietje Kathmann, Michael H Kristensen, Godefridus J Peters
Antimetabolites are incorporated into DNA and RNA, affecting their function. Liquid-chromatography-mass-spectrometry (LC-MS-MS) permits the sensitive, selective analysis of normal nucleosides. The method was adapted to measure the incorporation of deoxyuridine, gemcitabine (difluorodeoxycytidine), its metabolite difluorodeoxyuridine (dFdU), and the novel compound fluorocyclopentenylcytosine (RX3117). DNA was degraded to its deoxynucleotides for quantification by LC-MS-MS, gradient chromatography on a Phenomenex prodigy-3-ODS with positive ionization...
December 2016: Nucleosides, Nucleotides & Nucleic Acids
https://www.readbyqxmd.com/read/27900361/kbg-syndrome-involving-a-single-nucleotide-duplication-in-ankrd11
#5
Robert Kleyner, Janet Malcolmson, David Tegay, Kenneth Ward, Annette Maughan, Glenn Maughan, Lesa Nelson, Kai Wang, Reid Robison, Gholson J Lyon
KBG syndrome is a rare autosomal dominant genetic condition characterized by neurological involvement and distinct facial, hand, and skeletal features. More than 70 cases have been reported; however, it is likely that KBG syndrome is underdiagnosed because of lack of comprehensive characterization of the heterogeneous phenotypic features. We describe the clinical manifestations in a male currently 13 years of age, who exhibited symptoms including epilepsy, severe developmental delay, distinct facial features, and hand anomalies, without a positive genetic diagnosis...
November 2016: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/27895843/severe-anemia-in-malawian-children
#6
Job Cj Calis, Kamija S Phiri, E Brian Faragher, Bernard J Brabin, Imelda Bates, Luis E Cuevas, Rob J de Haan, Ajib I Phiri, Pelani Malange, Mirriam Khoka, Paul Jm Hulshof, Lisette van Lieshout, Marcel Ghm Beld, Yik Y Teo, Kirk A Rockett, Anna Richardson, Dominic P Kwiatkowski, Malcolm E Molyneux, Michaël Boele van Hensbroek
BACKGROUND: Severe anemia is a major cause of sickness and death in African children, yet the causes of anemia in this population have been inadequately studied. METHODS: We conducted a case-control study of 381 preschool children with severe anemia (hemoglobin concentration, <5.0 g per deciliter) and 757 preschool children without severe anemia in urban and rural settings in Malawi. Causal factors previously associated with severe anemia were studied. The data were examined by multivariate analysis and structural equation modeling...
September 2016: Malawi Medical Journal: the Journal of Medical Association of Malawi
https://www.readbyqxmd.com/read/27890954/prevalence-of-vitamin-b12-and-folic-acid-deficiency-in-hiv-positive-patients-and-its-association-with-neuropsychiatric-symptoms-and-immunological-response
#7
Prabha M R Adhikari, Mukta N Chowta, John T Ramapuram, Satish Rao, Karthik Udupa, Sahana Devdas Acharya
BACKGROUND: Deficiency of micronutrients is prevalent even before the development of symptoms of HIV disease and is associated with accelerated HIV disease progression. AIMS: This study evaluates the prevalence of folate and Vitamin B12 deficiency in HIV-positive patients with or without tuberculosis (TB) and its association with neuropsychiatric symptoms and immunological response. SETTINGS AND DESIGN: Cross-sectional, observational study in an outpatient setting...
July 2016: Indian Journal of Sexually Transmitted Diseases
https://www.readbyqxmd.com/read/27876556/homocysteine-and-disease-causal-associations-or-epiphenomenons
#8
REVIEW
Luciana Hannibal, Henk J Blom
Nutritional and genetic deficiencies of folate and vitamin B12 lead to elevation of cellular homocysteine (Hcy), which translates in increased plasma Hcy. The sources and role of elevated plasma Hcy in pathology continues to be a subject of intense scientific debate. Whether a cause, mediator or marker, little is known about the molecular mechanisms and interactions of Hcy with cellular processes that lead to disease. The use of folic acid reduces the incidence of neural tube defects, but the effect of Hcy-lowering interventions with folic acid in cardiovascular disease and cognitive impairment remains controversial...
November 19, 2016: Molecular Aspects of Medicine
https://www.readbyqxmd.com/read/27864850/hyperhomocysteinemia-in-greyhounds-and-its-association-with-hypofolatemia-and-other-clinicopathologic-variables
#9
R M Heilmann, N Grützner, M C Iazbik, R Lopes, C S Bridges, J S Suchodolski, C G Couto, J M Steiner
BACKGROUND: Folate and cobalamin are essential cofactors for homocysteine (HCY) metabolism. Hyperhomocysteinemia, a multifactorial condition, may reflect B vitamin deficiency and is associated with increased risk of cardiovascular disease, thrombosis, and neurodegenerative and chronic gastrointestinal diseases in humans. Hyperhomocysteinemia has been reported in Greyhounds with suspected chronic enteropathy. OBJECTIVES: To evaluate the frequencies of and the association between hypofolatemia and hyperhomocysteinemia in Greyhounds...
November 19, 2016: Journal of Veterinary Internal Medicine
https://www.readbyqxmd.com/read/27854316/causes-consequences-and-public-health-implications-of-low-b-vitamin-status-in-ageing
#10
REVIEW
Kirsty Porter, Leane Hoey, Catherine F Hughes, Mary Ward, Helene McNulty
The potential protective roles of folate and the metabolically related B-vitamins (vitamins B12, B6 and riboflavin) in diseases of ageing are of increasing research interest. The most common cause of folate and riboflavin deficiencies in older people is low dietary intake, whereas low B12 status is primarily associated with food-bound malabsorption, while sub-optimal vitamin B6 status is attributed to increased requirements in ageing. Observational evidence links low status of folate and the related B-vitamins (and/or elevated concentrations of homocysteine) with a higher risk of degenerative diseases including cardiovascular disease (CVD), cognitive dysfunction and osteoporosis...
November 16, 2016: Nutrients
https://www.readbyqxmd.com/read/27853271/foetal-programming-by-methyl-donor-deficiency-produces-steato-hepatitis-in-rats-exposed-to-high-fat-diet
#11
Anaïs Bison, Aude Marchal-Bressenot, Zhen Li, Ilef Elamouri, Eva Feigerlova, Lu Peng, Remi Houlgatte, Bernard Beck, Gregory Pourié, Jean-Marc Alberto, Remy Umoret, Guillaume Conroy, Jean-Pierre Bronowicki, Jean-Louis Guéant, Rosa-Maria Guéant-Rodriguez
Non-alcoholic steatohepatitis (NASH) is a manifestation of metabolic syndrome, which emerges as a major public health problem. Deficiency in methyl donors (folate and vitamin B12) during gestation and lactation is frequent in humans and produces foetal programming effects of metabolic syndrome, with small birth weight and liver steatosis at day 21 (d21), in rat pups. We investigated the effects of fetal programming on liver of rats born from deficient mothers (iMDD) and subsequently subjected to normal diet after d21 and high fat diet (HF) after d50...
November 17, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27852646/metabolic-reprogramming-by-folate-restriction-leads-to-a-less-aggressive-cancer-phenotype
#12
Zahra Ashkavand, Ciara O'Flanagan, Mirko Hennig, Xiuxia Du, Stephen D Hursting, Sergey A Krupenko
: Folate coenzymes are involved in biochemical reactions of one-carbon transfer, and deficiency of this vitamin impairs cellular proliferation, migration and survival in many cell types. Here the effect of folate restriction on mammary cancer was evaluated using three distinct breast cancer subtypes differing in their aggressiveness and metastatic potential: non-invasive basal-like (E-Wnt), invasive but minimally metastatic claudin-low (M-Wnt), and highly metastatic claudin-low (metM-Wntliver) cell lines, each derived from the same pool of MMTV-Wnt-1 transgenic mouse mammary tumors...
November 16, 2016: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/27846467/red-blood-cell-distribution-width-predicts-homocysteine-levels-in-adult-population-without-vitamin-b12-and-folate-deficiencies
#13
You-Fan Peng, Guo-Gang Pan
OBJECTIVES: Our aim in this study was to explore the relationship between red blood cell distribution width (RDW) and homocysteine levels in an adult population. METHODS: The study included 344 subjects who underwent health check-up in our hospital. The demographic characteristics and laboratory parameters of participants were grouped in accordance with tertiles of RDW. RESULTS: An increase of homocysteine levels was found from the first to third tertiles of RDW in all participants...
November 9, 2016: International Journal of Cardiology
https://www.readbyqxmd.com/read/27825397/micronutrient-intake-in-advanced-age-te-pu%C3%A4-waitanga-o-ng%C3%A4-tapuwae-kia-ora-tonu-life-and-living-in-advanced-age-a-cohort-study-in-new-zealand-lilacs-nz
#14
Carol Wham, Ruth Teh, Simon A Moyes, Anna Rolleston, Marama Muru-Lanning, Karen Hayman, Ngaire Kerse, Ashley Adamson
A high prevalence of undernutrition has previously been reported in indigenous Māori (49 %) and non-Māori (38 %) octogenarians and may be associated with risk of micronutrient deficiencies. We examined vitamin and mineral intakes and the contributing food sources among 216 Māori and 362 non-Māori participating in Life and Living to Advanced age a Cohort Study in New Zealand, using a repeat 24-h multiple-pass recall. More than half of the Māori and non-Māori participants had intakes below the estimated average requirement from food alone for Ca, Mg and Se...
November 9, 2016: British Journal of Nutrition
https://www.readbyqxmd.com/read/27821202/food-composition-tables-in-resource-poor-settings-exploring-current-limitations-and-opportunities-with-a-focus-on-animal-source-foods-in-sub-saharan-africa
#15
Julia de Bruyn, Elaine Ferguson, Margaret Allman-Farinelli, Ian Darnton-Hill, Wende Maulaga, John Msuya, Robyn Alders
Animal-source foods (ASF) have the potential to enhance the nutritional adequacy of cereal-based diets in low- and middle-income countries, through the provision of high-quality protein and bioavailable micronutrients. The development of guidelines for including ASF in local diets requires an understanding of the nutrient content of available resources. This article reviews food composition tables (FCT) used in sub-Saharan Africa, examining the spectrum of ASF reported and exploring data sources for each reference...
November 8, 2016: British Journal of Nutrition
https://www.readbyqxmd.com/read/27793182/homocysteine-metabolism-in-children-and-adolescents-with-epidermolysis-bullosa
#16
Rachele De Giuseppe, Greta Venturelli, Sophie Guez, Simona Salera, Claudia De Vita, Dario Consonni, Cinzia Dellanoce, Fabrizia Bamonti, Gabriella Chiarelli, Francesca Manzoni, Rita Maiavacca, Susanna Esposito
BACKGROUND: Epidermolysis bullosa (EB) belongs to a family of rare heterogeneous, genetic disorders characterized by blistering of the skin and mucous membranes in response to minor mechanical trauma. The involvement of the oral mucosa and oesophagus stenosis is suggested to be responsible for severe nutritional deficiencies, but few studies have till now considered this aspect. This observational study aimed to evaluate homocysteine status in children and adolescents with EB by assessing total plasma homocysteine (tHcy) and metabolically related vitamins (B6, B12, folate) concentrations...
October 29, 2016: BMC Pediatrics
https://www.readbyqxmd.com/read/27780269/comparative-assessment-of-vitamin-b12-folic-acid-and-homocysteine-levels-in-relation-to-p53-expression-in-megaloblastic-anemia
#17
Manish K Yadav, Nandini M Manoli, SubbaRao V Madhunapantula
BACKGROUND: Megaloblastic anemia (MBA), also known as macrocytic anemia, is a type of anemia characterized by decreased number of RBCs as well as the presence of unusually large, abnormal and poorly developed erythrocytes (megaloblasts), which fail to enter blood circulation due to their larger size. Lack of vitamin-B12 (VB12) and / or folate (Vitamin-B9, VB9) with elevated homocysteine is the key factor responsible for megaloblastic anemia. Prior studies have demonstrated the induction of apoptosis in these abnormal under-developed erythrocytes...
2016: PloS One
https://www.readbyqxmd.com/read/27756315/serum-folate-predicts-muscle-strength-a-pilot-cross-sectional-study-of-the-association-between-serum-vitamin-levels-and-muscle-strength-and-gait-measures-in-patients-65%C3%A2-years-old-with-diabetes-mellitus-in-a-primary-care-setting
#18
Andrew Kien Han Wee
BACKGROUND: Old age and diabetes mellitus are risk factors for vitamin deficiencies, weakness and falls. Deficiencies of vitamin D, and possibly vitamin B12 and folate (which are associated with hyperhomocysteinaemia), contribute to sarcopenia. Determination of the physical effects of vitamin deficiencies in specific groups of people can help to guide public health policy with regard to vitamin supplementation. METHODS: A pilot cross-sectional study was conducted to determine the association of levels of vitamin D, vitamin B12, folate and homocysteine with muscle strength, gait and fall history in 56 patients >65 years old with diabetes mellitus in primary care in Singapore...
October 18, 2016: Nutrition Journal
https://www.readbyqxmd.com/read/27748186/evaluation-of-homocysteine-vitamin-b12-and-folic-acid-levels-during-all-the-trimesters-in-pregnant-and-preeclamptic-womens
#19
Simmi Kharb, D Aggarwal, J Bala, S Nanda
BACKGROUND: Folate, vitamin B12 and vitamin B6 are required for homocysteine metabolism and their deficiency can result in increased homocysteine concentration. Homocysteine concentrations have been found to be increased in late pregnancy toward nonpregnant values. OBJECTIVE: To study folate, vitamin B12 and homocysteine levels in cord blood and maternal blood in preeclampsia. MATERIALS AND METHODS: One hundred fifty pregnant women attending Out Patient Department of Department of Obstetrics and Gynaecology were recruited for the study...
October 10, 2016: Current Hypertension Reviews
https://www.readbyqxmd.com/read/27743887/severe-leukoencephalopathy-with-cortical-involvement-and-peripheral-neuropathy-due-to-folr1-deficiency
#20
Yu Kobayashi, Jun Tohyama, Tomoyuki Akiyama, Shinichi Magara, Hideshi Kawashima, Noriyuki Akasaka, Mitsuko Nakashima, Hirotomo Saitsu, Naomichi Matsumoto
Cerebral folate deficiency due to folate receptor 1 gene (FOLR1) mutations is an autosomal recessive disorder resulting from a brain-specific folate transport defect. It is characterized by late infantile onset, severe psychomotor regression, epilepsy, and leukodystrophy. We describe a consanguineous girl exhibiting severe developmental regression, intractable epilepsy, polyneuropathy, and profound hypomyelination with cortical involvement. Magnetic resonance imaging showed cortical disturbances in addition to profound hypomyelination and cerebellar atrophy...
October 12, 2016: Brain & Development
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