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    Wyświetlanie 1-6 z 6
    Tytuł:
    Methylenetetrahydrofolate reductase (MTHFR-677 and MTHFR-1298) genotypes and haplotypes and plasma homocysteine levels in patients with occlusive artery disease and deep venous thrombosis
    Autorzy:
    Spiroski, Igor
    Kedev, Sashko
    Antov, Slobodan
    Arsov, Todor
    Krstevska, Marija
    Dzhekova-Stojkova, Sloboda
    Bosilkova, Gordana
    Kostovska, Stojanka
    Trajkov, Dejan
    Petlichkovski, Aleksandar
    Strezova, Ana
    Efinska-Mladenovska, Olivija
    Spiroski, Mirko
    Powiązania:
    https://bibliotekanauki.pl/articles/1040721.pdf
    Data publikacji:
    2008
    Wydawca:
    Polskie Towarzystwo Biochemiczne
    Tematy:
    MTHFR-677
    plasma total homocysteine
    occlusive artery disease
    MTHFR-1298
    deep venous thrombosis
    Opis:
    The aim was to investigate different genotypes and haplotypes of methylenetetrahydrofolate reductase (MTHFR-677, -1298) and plasma concentration of total homocysteine (tHcy) in Macedonian patients with occlusive artery disease (OAD) and deep venous thrombosis (DVT). Investigated groups consists of 80 healthy, 74 patients with OAD, and 63 patients with DVT. Plasma tHcy was measured with Microplate Enzyme Immunoassay. Identification of MTHFR genotypes and haplotypes was done with CVD StripAssay. The probability level (P-value) was evaluated by the Student's t-test. Plasma concentration of tHcy in CC and CT genotypes of MTHFR C677T was significantly increased in patients with OAD and in patients with DVT. Plasma concentration of tHcy in AC genotype of MTHFR A1298C was increased in patients with OAD and in patients with DVT. Plasma concentration of tHcy was significantly increased in AA genotype of patients with OAD, but not in patients with DVT. We found a significant increase of plasma tHcy in patients with OAD in comparison with healthy respondents for normal:heterozygote (CC:AC), heterozygote:normal (CT:AA), and heterozygote:heterozygote (CT:AC) haplotypes. Plasma concentration of tHcy in patients with DVT in comparison with healthy respondents was significantly increased for normal:normal (CC:AA), normal heterozygote (CC:AC), and heterozygote:heterozygote (CT:AC) haplotypes. We conclude that MTHFR C677T and MTHFR A1289C genotypes and haplotypes are connected with tHcy plasma levels in Macedonian patients with OAD and DVT.
    Źródło:
    Acta Biochimica Polonica; 2008, 55, 3; 587-594
    0001-527X
    Pojawia się w:
    Acta Biochimica Polonica
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Detection of C677T & A1298C mutations within the MTHFR gene by PCR and RFLP assays and assessment of risk factor of Hyperhomocysteinemia
    Autorzy:
    Amarakoon, A. A. D. Gayathri Upeksha
    Fernandopulle, Neil
    Powiązania:
    https://bibliotekanauki.pl/articles/1182887.pdf
    Data publikacji:
    2016
    Wydawca:
    Przedsiębiorstwo Wydawnictw Naukowych Darwin / Scientific Publishing House DARWIN
    Tematy:
    mthfr gene
    dna methylation
    hyperhomocysteinemia
    Opis:
    The MTHFR gene within the human genome, codes for the synthesis of Methylenetetrahydrofolate Reductase enzyme, which reduces 5,10-Methylenetetrahydrofolate to 5-Methyltetrahydrofolate, which in turn, is the major circulatory form of folate in the blood. Folate, in this form, among it’s other functions, is involved in reducing the homocysteine levels in the blood, whose elevated levels lead to Hyperhomocysteinemia, causing various major disorders. Mutations within the gene lead to impairment of gene function, in turn causing the homocysteine levels to rise. The C677T and A1298C mutations are the main causative agents for MTHFR gene disruption. During the course of the project, a total of 79 samples were analyzed for the presence of these mutations. The blood samples were first subjected to PCR, giving two separate DNA fragments each responsible for either of the conditions. The fragments were then subjected to RFLP analysis to detect the mutations. The results were finally given with respect to the risk factor faced by each individual based on a molecular diagnostic point of view.
    Źródło:
    World Scientific News; 2016, 53, 3; 253-274
    2392-2192
    Pojawia się w:
    World Scientific News
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Association of fat patterning, type 2 diabetes mellitus and MTHFR gene polymorphism: a study among the two ethnic groups of Tripura, North-East India
    Autorzy:
    Bhattacharya, Priyama
    Chatterjee, Diptendu
    Sarkar, Pranabesh
    Ghosh, Kusum
    Bandyopadhyay, Arup Ratan
    Powiązania:
    https://bibliotekanauki.pl/articles/454801.pdf
    Data publikacji:
    2019
    Wydawca:
    Uniwersytet Rzeszowski. Wydawnictwo Uniwersytetu Rzeszowskiego
    Tematy:
    fat patterning
    MTHFR
    obesity
    T2DM
    Opis:
    Introduction. Type 2 Diabetes Mellitus (T2DM) is a group of metabolic disorders resulting from insufficient action of insulin. The etiology of T2DM is multi-factorial that includes genetic factors, obesity and lifestyles. Recent reviews of overall and stratified meta-analyses demonstrated the association between MTHFR polymorphism (C677T) including fat distribution and risk of T2DM. Publications of Indian context regarding fat patterning and MTFHR genetic polymorphism of the North East Indian population are insufficient and scant among the ethnic population of Tripura. Aim. In this backdrop, the present study is the first attempt to understand the relationship of fat patterning, MTHFR gene polymorphism and T2DM among two Tibeto-Burman speaker endogamous ethnic populations (Chakmas-the migrant group and Tripuris – the aboriginal group) of Tripura, North East India. Material and methods. The present study consists of age matched 280 males (Chakmas 147 and the Tripuris 133) from Tripura. Anthropometric and metabolic (Fasting Blood Glucose) variables and to discern obesity, blood glucose level and genotyping of MTHFR was performed following standard techniques. Results. The result revealed significant (p<0.05) association of obesity, TT genotypes and fasting blood glucose among the Chakmas with in comparison to the Tripuris. Conclusion. In this first attempt from North East India on the aspects of association of fat Patterning, Type 2 Diabetes Mellitus and MTHFR gene polymorphism suggests that the Chakmas are more diabetic, and this might be due to the concomitant effects of T alleles and higher central obesity and Percent Body Fat (PBF). More population screening from other under-represented indigenous populations of North East India is needed for prevention of metabolic disorders.
    Źródło:
    European Journal of Clinical and Experimental Medicine; 2019, 3; 209 - 213
    2544-2406
    2544-1361
    Pojawia się w:
    European Journal of Clinical and Experimental Medicine
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Methylenetetrahydrofolate reductase gene polymorphisms in Egyptian Turner Syndrome patients
    Autorzy:
    Ismail, Manal
    Zarouk, Waheba
    Ruby, Mona
    Mahmoud, Wael
    Gad, Randa
    Powiązania:
    https://bibliotekanauki.pl/articles/1038999.pdf
    Data publikacji:
    2015
    Wydawca:
    Polskie Towarzystwo Biochemiczne
    Tematy:
    chromosomal nondisjunction
    DNA methylation
    folate
    MTHFR gene
    Turner Syndrome
    Opis:
    Background: Folate metabolism dysfunctions can result in DNA hypomethylation and abnormal chromosome segregation. Two common polymorphisms of the methylenetetrahydrofolate reductase (MTHFR) encoding gene (C677T and A1298C) reduce MTHFR activity, but when associated with aneuploidy, the results are conflicting. Turner Syndrome (TS) is an interesting model for investigating the association between MTHFR gene polymorphisms and nondisjunction because of the high frequency of chromosomal mosaicism in this syndrome. Objective: To investigate the association of MTHFR gene C677T and A1298C polymorphisms in TS patients and their mothers and to correlate these polymorphisms with maternal risk of TS offspring. Subjects and Methods: MTHFR C677T and A1298C polymorphisms were genotyped in 33 TS patients, their mothers and 15 healthy females with their mothers as controls using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and sequencing technique. Results: Genotype and allele frequencies of both C677T and A1298C were not significantly different between TS cases and controls. There were no significant differences in C677T genotype distribution between the TS mothers and controls (p=1). The MTHFR 1298AA and 1298AC genotypes were significantly increased in TS mothers Vs. control mothers (p=0.002). The C allele frequency of the A1298C polymorphism was significantly different between the TS mothers and controls (p=0.02). The association of A1298C gene polymorphism in TS patients was found to increase with increasing age of both mothers (p=0.026) and fathers (p=0.044) of TS cases. Conclusion: Our findings suggest a strong association between maternal MTHFR A1298C and risk of TS in Egypt.
    Źródło:
    Acta Biochimica Polonica; 2015, 62, 3; 529-532
    0001-527X
    Pojawia się w:
    Acta Biochimica Polonica
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Polymorphisms variants of the MTHFR C677T and PAI-1 5G/4G genes and their combinations in the group of children with arterial ischemic stroke
    Polimorficzne warianty genów MTHFR C667T oraz PAI-1 5G/4G oraz ich kombinacje w grupie dzieci z udarem niedokrwiennym mózgu
    Autorzy:
    Smulska, Nataliya
    Rossokha, Zoia
    Fishchuk, Liliya
    Gorovenko, Nataliya
    Nechai, Alla
    Nicolaenko, Iryna
    Rysliaieva, Viktotiia
    Krasilenko, Iryna
    Powiązania:
    https://bibliotekanauki.pl/articles/1836019.pdf
    Data publikacji:
    2020
    Wydawca:
    Polskie Towarzystwo Neurologów Dziecięcych
    Tematy:
    children
    arterial ischemic stroke
    MTHFR C677T gene polymorphism
    PAI-1 gene polymorphism
    dzieci
    udar niedokrwienny tętnic
    polimorfizm genów MTHFR C677T
    polimorfizm genów PAI
    Opis:
    Introduction. Arterial ischemic stroke (AIS) in childhood is a disorder associated with different predisposing factors, thrombophilia is one of them. We present the study of the MTHFR C677T and PAI-1 5G/4G gene polymorphisms as a possible risk factor for the development of AIS in the group of Ukrainian children. Materials and methods. 77 children from 29 days to 15 years of age were involved in this study: study group - 44 children with AIS, and 33 in a control group. Children enrolled to both groups were at similar age. Results. In the study group there was an increase in the frequency of genotypes 677CT (OR = 2.69) and 677TT, CT + TT genotypes (OR = 3.67) of the MTHFR gene, increased frequency of the 677T allele (OR = 2.57). In the study group detection of 5G/5G + 5G/4G genotypes was higher (OR = 2.82) with statistically predominance of the 5G allele (OR = 2.26) of the gene PAI -1. Higher frequency of the combination of genotypes genes 677CT + 5G/5G was found in the main group. The model of interpreting interactions was built, it allows to predict indirectly the potential intergenic interactions. Conclusions. We conclude that risk of AIS is higher in children with polymorphic variants 677CT and 677TT for the MTHFR gene; the association of polymorphic variants 5G/4G and 5G/5G for the PAI-1 gene with a decrease in the risk of developing AIS; direct interaction with the MTHFR was found for PAI-1, but of weak strength
    Wstęp: Udar niedokrwienny (AIS) jest rzadkim schorzeniem wieku dziecięcego, które wiąże się z różnymi czynnikami predysponującymi. Trombofilia jest jedną z ustalonych predyspozycji genetycznych do udaru w populacji pediatrycznej. Cel: Przedstawiamy badanie polimorfizmów genów MHFR C677T i PAI-1 5G / 4G jako potencjalnego czynnika ryzyka rozwoju AIS indywidualnie i łącznie w grupie dzieci ukraińskich. Materiał i metody Badaniem objęto 77 dzieci w wieku od 29 dni do 15 lat: grupa badana - 44 dzieci z AIS oraz grupa kontrolna - 33 dzieci zakwalifikowanych do obu grup znajdowały się w podobnym wieku. Wyniki: W badanej grupie stwierdzono większą częstość genotypów 677CT (OR = 2,69) i 677TT, genotypów CT + TT (OR = 3,67) genu MTHFR oraz większą częstość allelu 677T (OR = 2,57). W analizowanej grupie wykrywalność genotypów 5G / 5G + 5G / 4G była wyższa (OR = 2,82) przy statystycznej przewadze allelu 5G (OR = 2,26) genu PAI -1. Ponadto w analizowanej grupie pacjentów stwierdzono większą częstość kombinacji genotypów 677CT + 5G / 5G w porównaniu z grupą kontrolną. Wnioski: Uzyskane wyniki badań pozwalają na stwierdzenie, że ryzyko wystąpienia AIS u dzieci jest wyższe w przypadku obecności polimorficznych wariantów 677CT i 677TT dla genu MTHFR; z kolei skojarzenie wariantów polimorficznych 5G / 4G i 5G / 5G dla genu PAI-1 wiąże się ze zmniejszonym ryzykiem rozwoju AIS. Stwierdzono także występowanie bezpośredniej interakcji MTHFR z PAI-1, jednak o małej sile oddziaływania.
    Źródło:
    Neurologia Dziecięca; 2020, 29, 58; 27-32
    1230-3690
    2451-1897
    Pojawia się w:
    Neurologia Dziecięca
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Carrier-state of D allele in ACE gene insertion/deletion polymorphism is associated with coronary artery disease, in contrast to the C677→T transition in the MTHFR gene.
    Autorzy:
    Żak, Iwona
    Niemiec, Paweł
    Sarecka, Beata
    Balcerzyk, Anna
    Ciemniewski, Zbigniew
    Rudowska, Ewa
    Dyląg, Stanisław
    Powiązania:
    https://bibliotekanauki.pl/articles/1043632.pdf
    Data publikacji:
    2003
    Wydawca:
    Polskie Towarzystwo Biochemiczne
    Tematy:
    angiotensin converting enzyme gene (ACE)
    coronary artery disease
    methylenetetrahydrofolate reductase gene (MTHFR)
    polymorphisms
    Opis:
    Angiotensin I-converting enzyme (ACE), which plays an important role in blood pressure regulation, and methylenetetrahydrofolate reductase (MTHFR) involved in homocysteine metabolism belong to a large group of polypeptides which may be potential risk factors for atherosclerosis and coronary artery disease (CAD). To assess whether polymorphisms of the genes encoding these peptides are associated with CAD in Silesian we conducted a study among 68 individuals suffering from CAD (including 52 cases after myocardial infarction), 51 subjects with positive family history of CAD and 111 controls. We analysed the distribution of genotypes and allele frequencies of the insertion/deletion (I/D) polymorphism in the ACE gene using PCR amplification, and the C677→T polymorphism in the MTHFR gene using PCR-RFLP analysis. We found that D allele frequency was significantly higher in CAD patients (61%) than in controls (43%) (P = 0.001, OR = 2.06). The D allele carriers (DD + ID genotypes) were more frequent in the CAD patients (85%) compared to control group (65%) (P = 0.003, OR = 3.14), whereas the familial CAD risk group shows the highest frequency of the ID genotype (57% vs 43% in controls). In contrast, the MTHFR polymorphism does not seem to be associated with the disease. Our data indicate that in Silesian CAD patients the disease is strongly associated with carrier-state of the ACE D allele, but not with the C677→T transition in the MTHFR gene.
    Źródło:
    Acta Biochimica Polonica; 2003, 50, 2; 527-534
    0001-527X
    Pojawia się w:
    Acta Biochimica Polonica
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
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