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https://www.readbyqxmd.com/read/29115087/methylenetetrahydrofolate-reductase-polymorphisms-and-risk-of-recurrent-pregnancy-loss-a-case-control-study
#1
Kyu Ri Hwang, Young Min Choi, Jin Ju Kim, Sung Ki Lee, Kwang Moon Yang, Eun Chan Paik, Hyeon Jeong Jeong, Jong Kwan Jun, Sang Ho Yoon, Min A Hong
The balance between coagulation and fibrinolysis is an essential part in early pregnancy. Mutations in methylenetetrahydrofolate reductase (MTHFR) gene lead to decreased activity of the enzyme and hyperhomocysteinemia, which then induces platelet aggregation by promoting endothelial oxidative damage, possibly resulting in adverse effect on maintenance of pregnancy. We investigated the role of MTHFR single nucleotide polymorphisms (SNPs), C677T and A1298C, in Korean patients with recurrent pregnancy loss (RPL)...
December 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/29094226/aminoacidopathies-prevalence-etiology-screening-and-treatment-options
#2
REVIEW
Muhammad Wasim, Fazli Rabbi Awan, Haq Nawaz Khan, Abdul Tawab, Mazhar Iqbal, Hina Ayesha
Inborn errors of metabolism (IEMs) are a group of inherited metabolic disorders which are caused by mutations in the specific genes that lead to impaired proteins or enzymes production. Different metabolic pathways are perturbed due to the deficiency or lack of enzymes. To date, more than 500 IEMs have been reported with most of them being untreatable. However, fortunately 91 such disorders are potentially treatable, if diagnosed at an earlier stage of life. IEMs have been classified into different categories and one class of IEMs, characterized by the physiological disturbances of amino acids is called as aminoacidopathies...
November 1, 2017: Biochemical Genetics
https://www.readbyqxmd.com/read/29093435/recurrent-thrombosis-a-case-of-hereditary-thromboembolism
#3
Maria Concetta Giofrè, Francesca Napoli, Daniela La Rosa, Alessia Caruso, Natascia Laganà, Lucia Orlando Settembrini, Antonino Saitta, Antonio Giovanni Versace
BACKGROUND Thrombophilia is a predisposition to thrombosis. Genetic causes include antithrombin III, protein C, protein S, factor V Leiden, prothrombin 20210A allele, and MTHFR mutations. Other genetic factors causing thrombosis and pulmonary embolism have been identified in recent studies, including 4G/4G polymorphism of the PAI-1 gene. CASE REPORT A patient with a personal and family history of recurrent thrombosis and pulmonary embolism was admitted to our Internal Medicine Department. After the most common acquired risk factors for thromboembolism were ruled out, the patient and her family members underwent genetic diagnostic testing...
November 2, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/29038711/study-of-the-c677t-and-1298ac-polymorphic-genotypes-of-mthfr-gene-in-autism-spectrum-disorder
#4
Farida El-Baz, Mohammed Abd El-Aal, Tarek Moustafa Kamal, Abdelrahim Abdrabou Sadek, Amr Ahmed Othman
BACKGROUND: Autism is currently known as "a behaviorally defined syndrome" manifested as impairment in social communication, repetitive routines and restricted interests. There is an increased risk of ASDs associated with common mutations affecting the folate/methylation cycle. AIM: The aim of this study was to identify C677T and 1298AC polymorphic genotypes of MTHFR gene among a sample of Egyptian children with autism and to make a phenotype-genotype correlation for the autistic patients...
September 2017: Electronic Physician
https://www.readbyqxmd.com/read/28985766/mutations-in-brca1-brca2-and-other-breast-and-ovarian-cancer-susceptibility-genes-in-central-and-south-american-populations
#5
REVIEW
Lilian Jara, Sebastian Morales, Tomas de Mayo, Patricio Gonzalez-Hormazabal, Valentina Carrasco, Raul Godoy
Breast cancer (BC) is the most common malignancy among women worldwide. A major advance in the understanding of the genetic etiology of BC was the discovery of BRCA1 and BRCA2 (BRCA1/2) genes, which are considered high-penetrance BC genes. In non-carriers of BRCA1/2 mutations, disease susceptibility may be explained of a small number of mutations in BRCA1/2 and a much higher proportion of mutations in ethnicity-specific moderate- and/or low-penetrance genes. In Central and South American populations, studied have focused on analyzing the distribution and prevalence of BRCA1/2 mutations and other susceptibility genes that are scarce in Latin America as compared to North America, Europe, Australia, and Israel...
October 6, 2017: Biological Research
https://www.readbyqxmd.com/read/28976125/in-human-alleles-specific-variation-of-mthfr-c677t-and-a1298c-associated-risk-factor-for-the-development-of-ovarian-cancer
#6
Anupama Singh, S Pandey, L K Pandey, Ajit K Saxena
Etiopathology of tumor biology is highly complex and ovarian cancer is one of the important gynaecological neoplasia associated with <b>high risk<b> of mortality rate. Methlenetetrahydrofolate reductase (MTHFR) mutation are commonly linked to folate metabolism with increased risk factor for the development of neural tube defects, recurrent pregnancy loss and development of several type of cancer but genetic interaction between two alleles of MTHFR has been poorly defined in ovarian cancer in India...
September 2017: Journal of Experimental Therapeutics & Oncology
https://www.readbyqxmd.com/read/28943344/polymorphisms-of-the-folate-metabolizing-enzymes-association-with-sle-susceptibility-and-in-silico-analysis
#7
Saeedeh Salimi, Farshid Keshavarzi, Abbas Mohammadpour-Gharehbagh, Mahdieh Moodi, Mahdieh Mousavi, Mohammad Karimian, Mahnaz Sandoughi
Systemic lupus erythematosus (SLE) is a typical autoimmune disorder with multiple organ involvement and unknown etiology. It has been shown that polymorphic variants of the genes encoding key enzymes of folate and methionine metabolism may influence DNA methylation. Genomic DNA was extracted from blood samples of 150 SLE patients and 160 controls, matching age, sex, and ethnicity. MTHFR rs1801133C>T and MTR rs1805087A>G polymorphisms were genotyped by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method...
September 21, 2017: Gene
https://www.readbyqxmd.com/read/28936998/venous-thromboembolism-due-to-hyperhomocysteinaemia-and-tuberculosis
#8
Ankush Chaudhary, Unnati Desai, Jyotsna M Joshi
An 18-year-old male presented to our hospital with complaints of episodic abdominal pain, dry cough and right pleuritic chest pain. He was diagnosed as a case of right tuberculous pleural effusion on the basis of the pleural fluid Genexpert report of Mycobacterium tuberculosis detected sensitive to rifampicin and was started on antituberculous therapy. Forty-five days later, he presented with acute onset breathlessness, swelling of the right leg, streaky haemoptysis and a fresh left-sided pleural effusion. Evaluation revealed venous thromboembolism (right lower lobar segment pulmonary embolism with right leg deep vein thrombosis)...
May 2017: National Medical Journal of India
https://www.readbyqxmd.com/read/28924877/diagnostic-approach-to-neurotransmitter-monoamine-disorders-experience-from-clinical-biochemical-and-genetic-profiles
#9
Alice Kuster, Jean-Baptiste Arnoux, Magalie Barth, Delphine Lamireau, Nada Houcinat, Cyril Goizet, Bérénice Doray, Stéphanie Gobin, Manuel Schiff, Aline Cano, Daniel Amsallem, Christine Barnerias, Boris Chaumette, Marion Plaze, Abdelhamid Slama, Christine Ioos, Isabelle Desguerre, Anne-Sophie Lebre, Pascale de Lonlay, Laurence Christa
BACKGROUND AND AIM: To improve the diagnostic work-up of patients with diverse neurological diseases, we have elaborated specific clinical and CSF neurotransmitter patterns. METHODS: Neurotransmitter determinations in CSF from 1200 patients revealed abnormal values in 228 (19%) cases. In 54/228 (24%) patients, a final diagnosis was identified. RESULTS: We have reported primary (30/54, 56%) and secondary (24/54, 44%) monoamine neurotransmitter disorders...
September 18, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28889200/prevalence-of-common-hereditary-risk-factors-for-thrombophilia-in-somalia-and-identification-of-a-novel-gln544arg-mutation-in-coagulation-factor-v
#10
Abshir Ali Abdi, Abdimajid Osman
Thrombophilia, commonly manifested as venous thromboembolism (VTE), is a worldwide concern but little is known on its genetic epidemiology in many parts of the globe particularly in the developing countries. Here we employed TaqMan genotyping and pyrosequencing to evaluate the prevalence of known common nucleotide polymorphisms associated with thrombophilia in a Somali population in the Puntland region of Somalia. We also employed next generation sequencing (NGS) to investigate other genetic variants in a Somali patient with deep venous thrombosis (DVT)...
November 2017: Journal of Thrombosis and Thrombolysis
https://www.readbyqxmd.com/read/28862981/need-for-pharmacogenetic-studies-on-the-prevalence-of-mthfr-mutations-in-puerto-ricans-and-hispanics
#11
Raúl H Morales-Borges
Methylenetetrahydrofolate reductase (MTHFR) mutations have been linked to many diseases. Evidence has been provided to prove that we need to perform pharmacogenetic studies regarding the prevalence of MTHFR mutations and diseases, risks, and the impact on folate requirement in general, but little has been published about Puerto Ricans. A multi center cross-sectional retrospective review study or a prospective pharmacogenetic study of valid genotypes and phenotypes of MTHFR mutations within the different populations of Puerto Ricans and Hispanics are recommended, because differences within them and within the general population are expected...
September 26, 2017: Drug Metabolism and Personalized Therapy
https://www.readbyqxmd.com/read/28858863/association-of-plasminogen-activator-inhibitor-1-gene-polymorphisms-and-methylene-tetrahydrofolate-reductase-polymorphisms-with-spontaneous-miscarriages
#12
Petra Bubalo, Iva Buterin, Zrinko Šalek, Vesna Ðogić, Silva Zupančić-Šalek
AIM: The objective of this study was to investigate a possible correlation between the plasminogen activator inhibitor-1 (PAI-1) and methylene tetrahydrofolate reductase (MTHFR) polymorphisms and unexplained spontaneous miscarriages (SM). MATERIALS AND METHODS: PAI-1 polymorphisms were evaluated in 150 women with pregnancy in their history. One hundred women with a history of SM formed the study group and 50 women with normal pregnancies served as the control group...
2017: Acta Haematologica
https://www.readbyqxmd.com/read/28847029/prevalence-of-the-mthfr-c677t-mutation-in-fertile-and-infertile-women
#13
Adriana de Góes Soligo, Ricardo Barini, Joyce Maria Annichino-Bizzacchi
Introduction The importance of the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene in infertile women remains controversial. Objective To evaluate if the MTHFR C677T mutations are more frequent in infertile women, and if they can be associated with the occurrence of infertility in the Brazilian population. Methods This case-control study included 130 infertile women consulting at a private clinic between March 2003 and March 2005 (data previously published), and 260 fertile women attending the family planning outpatient clinic of our institution between April 2012 and March 2013...
August 28, 2017: Revista Brasileira de Ginecologia e Obstetrícia
https://www.readbyqxmd.com/read/28729765/meta-analysis-study-to-evaluate-the-association-of-mthfr-c677t-polymorphism-with-risk-of-ischemic-stroke
#14
P A Abhinand, M Manikandan, R Mahalakshmi, P K Ragunath
Ischemic stroke is a condition characterized by reduced blood supply to part of the brain, initiating the ischemic cascade, leading to dysfunction of the brain tissue in that area. It is one of the leading causes of death and disability and is estimated to cause around 5.7 million deaths worldwide. Methyl tetra hydro-folate reductase (MTHFR) is a rate limiting enzyme in the methyl cycle which catalyzes the only biochemical reaction which produces 5, Methyl tetra hydro folate, the co-substrate for the re-methylation of homocystiene to produce methionine...
2017: Bioinformation
https://www.readbyqxmd.com/read/28702146/are-polymorphisms-in-mtrr-a66g-and-mthfr-c677t-genes-associated-with-congenital-heart-diseases-in-iranian-population
#15
Noormohammad Noori, Ebrahim Miri-Moghaddam, Asieh Dejkam, Yasman Garmie, Ali Bazi
BACKGROUND: The 5, 10-methyleneterahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) are two essential enzymes involved in folate metabolism. The relationship between genetic polymorphisms and congenital heart defects (CHDs) is inconsistent. Our aim was to investigate the association between two well-known polymorphisms of MTHFR and MTRR genes, C677T and A66G, respectively, and CHDs in Iranian patients. METHODS: We enrolled 74 patients with ventricular septal defect (VSD) and 79 with tetralogy of fallot (TOF) along with 147 healthy controls...
2017: Caspian Journal of Internal Medicine
https://www.readbyqxmd.com/read/28689805/the-importance-of-folate-vitamins-b6-and-b12-for-the-lowering-of-homocysteine-concentrations-for-patients-with-recurrent-pregnancy-loss-and-mthfr-mutations
#16
Danielius Serapinas, Evelina Boreikaite, Agne Bartkeviciute, Rita Bandzeviciene, Mindaugas Silkunas, Daiva Bartkeviciene
In patients with MTHFR (methylenetetrahydrofolate reductase) mutations and hyperhomocysteinemia, recurrent pregnancy loss is a frequent feature. The aim of the study was to evaluate the impact of folic acid, vitamins B6 and B12 supplementation for the lowering of total homocysteine concentrations and pregnancy. 16 patients who had had 3 or more miscarriages and MTHFR mutations were used in the study. They received methylfolate (5mg/day), vitamin B6 (50mg/day) and vitamin B12 (1mg/week). Supplementation induced a decrease in homocysteine from 19...
September 2017: Reproductive Toxicology
https://www.readbyqxmd.com/read/28649568/a-prothrombotic-score-based-on-genetic-polymorphisms-of-the-hemostatic-system-differs-in-patients-with-ischemic-stroke-myocardial-infarction-or-peripheral-arterial-occlusive-disease
#17
Juliane Herm, Berthold Hoppe, Bob Siegerink, Christian H Nolte, Jürgen Koscielny, Karl Georg Haeusler
BACKGROUND: While twin studies indicate a genetic component in arterial thrombosis such as ischemic stroke, myocardial infarction (MI), or peripheral arterial occlusive disease (PAOD), the clinical relevance of hemostatic polymorphisms in arterial thrombosis is a matter of debate. METHODS: We analyzed the prevalence of 13 hemostatic polymorphisms [PAI-1, PLAT, F5 (including factor V Leiden and HR2 haplotype), F2, F7, F13A, FGB, TFPI, THBD, MTHFR, ACE, and ITGA2] in patients referred to a tertiary referral center...
2017: Frontiers in Cardiovascular Medicine
https://www.readbyqxmd.com/read/28641625/-effect-of-gstp1-and-mthfr-gene-polymorphism-on-side-effects-of-hd-mtx-in-all-children
#18
Fei Li, Dan-Dan Yin, Xiao-Lan Zhou, Jian-Mei Ma, Hong-Mei Guo, Li Meng
OBJECTIVE: To Study the effect of C677T and MTHFR gene polymorphism on side effects of HD-MTX in ALL children. METHODS: The gene polymorphism of C677T A303G and MTHFR C677T were detected by PCR in 98 ALL children from January 2014 to January 2016. The side effects during HD-MTX therapy were observed, and the relationship among GSTP1, MTHFR gene polymorphism and incidence of side effect of HD-MTX were analyzed. RESULTS: Among 98 ALL children, the gene variation was observed in 61 ALL children (62...
June 2017: Zhongguo Shi Yan Xue Ye Xue za Zhi
https://www.readbyqxmd.com/read/28627828/the-relationship-between-the-mthfr-c677t-genotypes-to-serum-anti-m%C3%A3-llerian-hormone-concentrations-and-in-vitro-fertilization-intracytoplasmic-sperm-injection-outcome
#19
Seyedeh Z Shahrokhi, Faranak Kazerouni, Firouzeh Ghaffari, Ali Rahimipour, Mir D Omrani, Arezoo Arabipoor, Ramin Lak, Elaheh T Ghane
BACKGROUND: The expression of the 5,10-methylentetrahydrofolate reductase (MTHFR) gene in human oocytes and preimplantation embryos suggests that the MTHFR gene is involved in folliculogenesis and female reproduction. Considering the importance of the MTHFR gene on female reproduction, the aim of this study was to evalu- ate the influence of MTHFR C677T polymorphism on ovarian marker reserve, particularly serum anti-Müllerian hormone (AMH) levels, and ovarian response as well as clinical pregnancy rates after in vitro fertilization (IVF)/ intracytoplasmic sperm injection (ICSI)...
May 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/28616569/successful-conservative-treatment-of-myocardial-infarction-in-a-teenager-with-mthfr-mutation
#20
Subhrajit Lahiri, Branko Cuglievan, Jeremy Landeo Gutierrez, Athena Pefkarou
No abstract text is available yet for this article.
June 2017: IJC Heart & Vasculature
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