ABSTRACT
Introduction: For MTHFR as with homocysteine testing,no official guidelines exist as to who should be tested.Homozygosity for the MTHFR C677T mutation has beenassociated with an increase in blood clotting together withplasma homocysteine increase and DVT occurrence risk.Case report: A 28 year young male patient presented withcomplaints of sudden onset breathlessness for 5 days. Theepisodes of breathlessness were associated with diffuseanterior chest pain. There was no history of leg pain, cough,sputum, hemoptysis, fever. No history of prior hospitalization,trauma, surgery and immobilization could be elicited from thepatient. He was a non smoker with no other comorbidities.On presentation his pulse rate was 120 per minute, respiratoryrate was 22 per minute, blood pressure 146/92 mm Hg,temperature 98.8 ° F, SpO2 of 94% at room air. His generalphysical examination was unremarkable.Conclusion: Although it has been observed that elevatedhomocysteine levels are a common finding in patientswith cardiovascular disease and thrombosis, its role in itspathogenesis is still under evaluation. Homozygosity forthe MTHFR C677T mutation has been associated withincreased homocysteine levels. Testing for this mutation is animportant parameter in thrombophilia workup of patients withunprovoked VTE.
ABSTRACT
Objective To explore the association of MTHFR C677T polymorphism and birth body mass with the vulnerability of autism in Chinese Han population. Methods Totally 1 505 children with au-tism have been recruited,using the diagnosis and statistical manual,4th revised version ( DSM-IV-R) diag-nostic criteria for autism. And 1 308 healthy control subjects sex matched with the children with autism were enrolled for the study. All the participants were identified the birth body mass ( kg) according to the birth medical recording. All the subjects were examined the MTHFR C677T genotypes,using the polymerase chain reaction- restrict fragment length polymorphism (PCR-RFLP) methods. The frequencies of genotypes,alleles and birth body mass were compared between autism and healthy control groups using the chi-square and other tests. Results The MTHFR C677T (P=0. 004,OR=1. 18,95% CI=1. 02-1. 29),low birth body mass (<2. 5 kg) (P=0. 001,OR=1. 04,95%CI=1. 02-1. 06),and their interactive effects ( P=0. 0001,OR=2. 18,95%CI=1. 44-3. 32) were associated with the vulnerability of autism. Conclusions The MTHFR C677T polymorphism,low birth body mass and their interactive effects might be associated with susceptibility of autism in Chinese Han population.
ABSTRACT
Pregnancy is a critical stimulator of bone mineral resorption.We used to find the MTHFR gene polymorphisms are related with blood lead levels among pregnant women.Pregnancy-stimulated bone turnover may be associated with MTHFR gene polymorphisms too.In this article,we aimed to determine the relationship between MTHFR gene polymorphisms and bone turnover rates among the pregnant women.The participants including pregnant and non-pregnant women were selected and recruited during their routine prenatal or physical examination from July to October in 2012.A total of 1000 participants,including 250 pregnant women in the first,second,and third trimesters and 250 non-pregnant women,were enrolled in the study.Finally,after excluding 27 participants unable to provide blood samples,973 eligible participants (i.e.,234,249,and 248 pregnant women in the first,second,and third trimesters,respectively,and 242 non-pregnant women)were included in the research.The MTHFR gene 1298CC homozygote carriers were more susceptible to yield higher plasma homocysteine levels than the 1298AA/AC carriers,with standardized coefficients of 0.086 (P＜0.05) and 0.104 (P＜0.01) of all the participants and the pregnant women,respectively.The MTHFR gene 1793AA homozygote carriers more likely showed higher plasma osteocalcin levels (standardized β=0.091,P＜0.01) than the 1793GG/GA carriers among all the subjects.Plasma homocysteine levels were positively correlated with blood lead levels among the participants and the pregnant women with standardized coefficients of 0.320 (P＜0.01) and 0.179 (P＜0.01),respectively.Plasma osteocalcin levels were positively associated with blood lead levels among pregnant and non-pregnant women with standardized coefficients of 0.084 (P＜0.05) and 0.125 (P＜0.01),respectively.In conclusion,homocysteine and osteocalcin contents in plasma are associated with the MTHFR gene A1298C polymorphism and blood lead levels among pregnant women.The MTHFR gene A 1298C polymorphism-related homocysteine is a possible risk factor for increased blood lead levels among Chinese women.
ABSTRACT
Pregnancy is a critical stimulator of bone mineral resorption.We used to find the MTHFR gene polymorphisms are related with blood lead levels among pregnant women.Pregnancy-stimulated bone turnover may be associated with MTHFR gene polymorphisms too.In this article,we aimed to determine the relationship between MTHFR gene polymorphisms and bone turnover rates among the pregnant women.The participants including pregnant and non-pregnant women were selected and recruited during their routine prenatal or physical examination from July to October in 2012.A total of 1000 participants,including 250 pregnant women in the first,second,and third trimesters and 250 non-pregnant women,were enrolled in the study.Finally,after excluding 27 participants unable to provide blood samples,973 eligible participants (i.e.,234,249,and 248 pregnant women in the first,second,and third trimesters,respectively,and 242 non-pregnant women)were included in the research.The MTHFR gene 1298CC homozygote carriers were more susceptible to yield higher plasma homocysteine levels than the 1298AA/AC carriers,with standardized coefficients of 0.086 (P＜0.05) and 0.104 (P＜0.01) of all the participants and the pregnant women,respectively.The MTHFR gene 1793AA homozygote carriers more likely showed higher plasma osteocalcin levels (standardized β=0.091,P＜0.01) than the 1793GG/GA carriers among all the subjects.Plasma homocysteine levels were positively correlated with blood lead levels among the participants and the pregnant women with standardized coefficients of 0.320 (P＜0.01) and 0.179 (P＜0.01),respectively.Plasma osteocalcin levels were positively associated with blood lead levels among pregnant and non-pregnant women with standardized coefficients of 0.084 (P＜0.05) and 0.125 (P＜0.01),respectively.In conclusion,homocysteine and osteocalcin contents in plasma are associated with the MTHFR gene A1298C polymorphism and blood lead levels among pregnant women.The MTHFR gene A 1298C polymorphism-related homocysteine is a possible risk factor for increased blood lead levels among Chinese women.
ABSTRACT
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). We conducted a prospective case-control study in the Korean population. Subjects included 302 women with 2 or more consecutive, unexplained, spontaneous miscarriages before 20 weeks of gestation and 315 control women without a history of recurrent miscarriages. The genotyping for C677T and A1298C polymorphisms was performed using the TaqMan assay. Continuous variables were compared using Student's t-test, and χ² test was used to evaluate differences in the genotype distributions between the RPL and the controls. The genotype distribution of both polymorphisms in the RPL group did not differ from those of the controls. For further analysis, if RPL patients were divided according to the numbers of pregnancy losses (≥ 2 and ≥ 3) neither group was significantly different compared with controls. MTHFR gene C677T and A1298C polymorphisms are not associated with idiopathic RPL in Korean women, suggesting that those may not be susceptible allelic variants or be deficient to cause RPL.
Subject(s)
Female , Humans , Pregnancy , Abortion, Habitual , Abortion, Spontaneous , Case-Control Studies , Fibrinolysis , Genotype , Hyperhomocysteinemia , Methylenetetrahydrofolate Reductase (NADPH2) , Platelet Aggregation , Polymorphism, Single Nucleotide , Prospective StudiesABSTRACT
By studying the relationship between syndromes, physique and MMP-9, IL-6 and MTHFR gene polymorphisms in patients with ischemic stroke,The relationship between MMP-9, IL-6 and MTHFR gene polymorphism was analyzed in patients with ischemic stroke.The data were collected by collecting the data of patients with ischemic stroke, and the statistical analysis was carried out. Syndrome：61 cases of ischemic stroke patients with stroke phlegm stasis syndrome in patients with the highest frequency, a total of 30 cases; Physical constitution： phlegm is ischemic stroke patients prone to physical, a total of 20 cases; The analysis of the relationship between constitution and syndrome shows that the patients with qi deficiency constitution tend to show qi deficiency and blood stasis syndrome after onset, The analysis of the relationship between constitution and syndrome shows that the patients with qi deficiency constitution tend to show qi deficiency and blood stasis syndrome after onset, Phlegm constitution and physical condition after the onset of symptoms tend to wind phlegm stasis syndrome; Syndrome and MMP-9, IL-6 relationship：The distribution of MMP-9 and IL-6 in patients with qi and phlegm stasis syndrome and qi deficiency and blood stasis syndrome was significantly different from that in Z test (P<0.05). The level of MMP-9 in patients with qi deficiency and blood stasis syndrome was significantly higher than that in patients with wind phlegm and blood stasis syndrome;The level of IL-6 in patients with phlegm and blood stasis syndrome was significantly higher than that in patients with qi deficiency and blood stasis syndrome. Syndrome, constitution and MTHFR gene polymorphism： among the 61 samples, 34 were heterozygous mutations, 15 were pure and mutated, 12 had no mutation, The mutation rate of this locus was 4.08 times that of patients without mutations.The genotype of MTHFR C677T in patients with phlegm dampness tends to be CT genotype. Wind phlegm stasis syndrome in patients with easy to appear after the TT genotype; Yin deficiency syndrome in patients prone to miscellaneous and mutations, the performance of CT genotype; Analysis of the relationship between syndromes and physique in patients with ischemic stroke,Phlegm and dampness, flat quality patients after the onset of easy to show the wind phlegm stasis syndrome; Qi deficiency after the onset of symptoms in patients with Qi and blood stasis. Suggesting that before the onset of such as for the partial physical conditioning, may be on the prevention of ischemic stroke have a certain effect; Analysis of the relationship between syndromes and MMP-9 and IL-6 in patients with ischemic stroke, Wind phlegm stasis syndrome and IL-6 levels are related, Qi deficiency and blood stasis syndrome and MMP-9 levels are related. Analysis of the relationship between syndromes and MTHFR gene polymorphism in patients with ischemic stroke, TT genotype after the onset of symptoms prone to wind phlegm stasis syndrome, CT genotype patients after the onset of easy manifestations of Yin deficiency wind syndrome; Analysis of the relationship between physique and MTHFR gene polymorphism in patients with ischemic stroke, CT genotype is easy to show phlegm.For more in-depth understanding of pathogenesis of ischemic stroke to provide the basis, For the clinical treatment and prevention to provide intervention strategies.
ABSTRACT
Objective To explore the association of methylenetetrahydrofolate reductase (MTHFR)gene C677T polymorphism with weight gain induced by risperidone.Methods 356 patients with schizophrenia according to the DSM-IV criteria in this study.The height and body weight of the patients were measured before starting risperidone treatment and 8-week later.The MTHFRC677T polymorphism was genotyped using direct DNA sequencing method.Results A significant association was found between MTHFR gene C677T and body weight mass index (BMI) change after 8-week risperidone treatment.CC-carriers experienced higher BMI gain than CT/TT-carriers (CC (4.47 ± 1.09),CT (4.54 ± 1.27),TT (2.31 ± 0.75),F =5.634,P＜0.01).The frequency of allele C in bodyweight gain (＞7％) was higher than that in non-bodyweight gain groups (48.4％ vs 32.4％,x2=11.342,P＜0.01).Conclusion MTHFRC677T polymorphism is associated with risperidone induced weight gain in Chinese Han population.
ABSTRACT
Objective To explore the association of methylenetetrahydrofolate reductase (MTHFR)gene C677T polymorphism with weight gain induced by risperidone.Methods 356 patients with schizophrenia according to the DSM-IV criteria in this study.The height and body weight of the patients were measured before starting risperidone treatment and 8-week later.The MTHFRC677T polymorphism was genotyped using direct DNA sequencing method.Results A significant association was found between MTHFR gene C677T and body weight mass index (BMI) change after 8-week risperidone treatment.CC-carriers experienced higher BMI gain than CT/TT-carriers (CC (4.47 ± 1.09),CT (4.54 ± 1.27),TT (2.31 ± 0.75),F =5.634,P＜0.01).The frequency of allele C in bodyweight gain (＞7％) was higher than that in non-bodyweight gain groups (48.4％ vs 32.4％,x2=11.342,P＜0.01).Conclusion MTHFRC677T polymorphism is associated with risperidone induced weight gain in Chinese Han population.
ABSTRACT
Objective To explore the role of clinical pharmacist in individualized treatment of hypertension.Methods A patient withH hypertension receiving pharmaceutical care from clinical pharmacists was retrospectively analyzed.Results Patient's MTHFR (C677T) gene type was TT homozygous.Clinical pharmacist suggested doctor modify treatment,and then patient's plasma homocysteine dropped from 61.5 to 16.0 μmol·L-1,and blood pressure dropped from 173/ 111 mmHg(1 mmHg =0.133 kPa) to 130/80 mmHg.Conclusion Clinical pharmacist provides individualized treatment for patient with hypertension to ensure the safety and effectiveness of the drug by genotyping.
ABSTRACT
C677T mutation in the gene encoding 5,10-methylenetetrahydrofolate reductase (MTHFR) predisposes to hyperhomocysteinemia in vivo and is known to be one of the causes of perinatal ischemic stroke. As MTHFR plays a role in the metabolism of homocysteine, C677T mutation may account for reduced enzymatic activity resulting in hyperhomocysteinemia. This may be prevented by introducing activity-enhancing coenzymes such as folic acid, vitamin B6, and B12. Though C677T mutation is known as a significant risk factor for cerebral infarction, reported cases of cerebral infarction among affected neonates are scarce. This report describes a case of a neonate homozygous for C677T mutation who had a perinatal ischemic stroke, born in a mother whose folic acid and nutritional consumption had been reduced during pregnancy.
Subject(s)
Humans , Infant, Newborn , Pregnancy , Cerebral Infarction , Coenzymes , Folic Acid , Homocysteine , Hyperhomocysteinemia , Metabolism , Mothers , Oxidoreductases , Risk Factors , Stroke , Vitamin B 6ABSTRACT
Background & objectives: Methylenetetrahydrofolate reductase (MTHFR) is a critical enzyme in folate metabolism and involved in DNA synthesis, DNA repair and DNA methylation. The two common functional polymorphisms of MTHFR, 677 C→T and 1298 A→C have shown to impact several diseases including cancer. This case-control study was undertaken to analyse the association of the MTHFR gene polymorphisms 677 C→T and 1298 A→C and risk of colorectal cancer (CRC). Methods: One hundred patients with a confirmed histopathologic diagnosis of CRC and 86 age and gender matched controls with no history of cancer were taken for this study. DNA was isolated from peripheral blood samples and the genotypes were determined by PCR-RFLP. The risk association was estimated by compounding odds ratio (OR) with 95 per cent confidence interval (CI). Results: Genotype frequency of MTHFR 677 CC, CT and TT were 76.7, 22.1 and 1.16 per cent in controls, and 74, 25 and 1.0 per cent among patients. The ‘T’ allele frequency was 12.21 and 13.5 per cent in controls and patients respectively. The genotype frequency of MTHFR 1298 AA, AC, and CC were 25.6, 58.1 and 16.3 per cent for controls and 22, 70 and 8 per cent for patents respectively. The ‘C’ allele frequency for 1298 A→C was 43.0 and 45.3 per cent respectively for controls and patients. The OR for 677 CT was 1.18 (95% CI 0.59-2.32, P = 0.642), OR for 1298 AC was 1.68 (95% CI 0.92-3.08, P = 0.092) and OR for1298 CC was 0.45 (95% CI 0.18-1.12, P = 0.081). The OR for the combined heterozygous state (677 CT and 1298 AC) was 1.18 (95% CI 0.52-2.64, P =0.697). Interpretation & conclusion: The frequency of the MTHFR 677 TT genotype is rare as compared to 1298 CC genotype in the population studied. There was no association between 677 C→T and 1298 A→C polymorphisms and risk of CRC either individually or in combination. The homozygous state for 1298 A→C polymorphism appears to slightly lower risk of CRC. This needs to be confirmed with a larger sample size.
Subject(s)
Adolescent , Adult , Aged , Base Sequence , Case-Control Studies , Colorectal Neoplasms/epidemiology , Colorectal Neoplasms/genetics , DNA Primers , Female , Gene Frequency , Humans , India/epidemiology , Male , Methylenetetrahydrofolate Reductase (NADPH2)/genetics , Middle Aged , Polymorphism, Genetic , Young Adult , Comet Assay , DNA/genetics , Humans , Infertility, Male/genetics , Male , Polymerase Chain Reaction , Prognosis , Reproductive Techniques, AssistedABSTRACT
Many epidemiological studies have reported an association between hemostatic factors and risk of both coronary and peripheral artery diseases. Using polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) analysis, we investigated the association between coronary artery disease and polymorphisms in the methylenetetrahydrofolate reductase (MTHFR C677T and A1298C), prothrombin (G20210A), and factor V (A4070G) genes. We screened these gene variants in 174 subjects who had undergone coronary angiography - 115 patients with patent coronary artery disease (grade 3 vessel disease, i.e., significant coronary stenosis), and 59 healthy controls with grade 0 vessel disease. The analysis of our data did not show any statistically significant association between coronary artery disease (CAD) and the investigated polymorphisms.
Subject(s)
Humans , Male , Female , Aged , Coronary Stenosis/epidemiology , Factor V , Prothrombin , Polymorphism, Genetic , Polymorphism, Restriction Fragment Length , Risk Factors , TurkeyABSTRACT
BACKGROUND: Dysfunctions in the folate metabolism can result in DNA hypomethylation and abnormal chromosome segregation. Two common polymorphisms of this enzyme (C677T and A1298C) reduce its activity, but when associated with aneuploidy studies the results are conflicting. The objective of the present study is to analyze the MTHFR gene polymorphisms in women with Turner Syndrome and in a control group, correlating the findings to the chromosomal aneuploidy. METHODS: The study comprised 140 patients with Turner Syndrome, of which 36 with chromosome mosaicism and 104 non-mosaics, and a control group of 209 fertile and healthy women without a history of any offspring with aneuploidy. Polymorphisms C677T and A1298C were studied by RFLP-PCR and the results were statistically analyzed. RESULTS: The frequency of genotypes MTHFR 677CC, 677CT and 677TT in the patients with Turner Syndrome and chromosome mosaicism was, respectively, 58.3 percent, 38.9 percent and 2.8 percent. Among the patients with non-mosaic Turner Syndrome, 47.1 percent presented genotype 677CC, 45.2 percent genotype 677CT, and 7.7 percent genotype 677TT. Among the 209 individuals of the control group, genotypes 677CC, 677CT and 677TT were found at the following frequencies: 48.3 percent, 42.1 percent and 9.6 percent, respectively. As for polymorphism A1298C, the patients with Turner Syndrome and chromosome mosaicism presented genotypes 1298AA, 1298AC and 1298CC at the following frequencies: 58.3 percent, 27.8 percent and 13.9 percent, respectively. Among the non-mosaic Turner Syndrome patients, genotype 1298AA was found in 36.5 percent, genotype 1298AC in 39.4 percent, and genotype 1298CC in 22.1 percent. In the control group, genotypes 1298AA, 1298AC and 1298CC were present at the following frequencies: 52.6 percent, 40.7 percent and 6.7 percent, respectively. CONCLUSION: No correlation was observed between the MTHFR gene polymorphism 677 and chromosomal aneuploidy in the...
INTRODUÇÃO: Disfunções no metabolismo dos folatos podem resultar em hipometilação do DNA e na segregação cromossômica anormal. Dois polimorfismos comuns no gene MTHFR (C677T e A1298C) reduzem a atividade da enzima e, quando associados a estudos de aneuploidias apresentam resultados conflitantes. O objetivo do presente estudo foi a análise dos polimorfismos do gene MTHFR em mulheres portadoras da síndrome de Turner e em indivíduos de grupo-controle, correlacionando os achados ao mecanismo de formação de aneuploidias cromossômicas. MÉTODOS: Foram estudadas 140 portadoras da síndrome de Turner sendo 36 com mosaicismo cromossômico e 104 não-mosaicos, e um grupo-controle composto por 209 mulheres férteis e saudáveis sem história de prole com aneuplodia. Os polimorfismos MTHFR C677T e A1298C foram estudados por RFLP-PCR e os resultados analisados estatisticamente. RESULTADOS: A freqüência dos genótipos MTHFR 677CC, 677CT e 677TT nas pacientes portadoras de síndrome de Turner e mosaicismo cromossômico foi, respectivamente, 58,3 por cento, 38,9 por cento e 2,8 por cento. Das pacientes portadoras de síndrome de Turner não-mosaico, 47,1 por cento apresentaram o genótipo 677CC, 45,2 por cento o genótipo 677CT e 7,7 por cento apresentaram o genótipo 677TT. Nos 209 indivíduos do grupo-controle, os genótipos 677CC, 677CT e 677TT foram encontrados nas seguintes freqüências: 48,3 por cento, 42,1 por cento e 9,6 por cento, respectivamente. Quanto ao polimorfismo A1298C, as portadoras de síndrome de Turner e mosaicismo cromossômico apresentaram os genótipos 1298AA, 1298AC e 1298CC nas seguintes freqüências: 58,3 por cento, 27,8 por cento e 13,9 por cento, respectivamente. Já nas portadoras de Síndrome de Turner não-mosaico, o genótipo 1298AA foi encontrado em 36,5 por cento, o genótipo 1298AC em 39,4 por cento e o genótipo 1298 CC em 22,1 por cento . No grupo-controle, os genótipos 1298AA, 1298AC e 1298CC estavam presentes nas freqüências 52,6 por cento...
Subject(s)
Female , Humans , Aneuploidy , /genetics , Polymorphism, Genetic/genetics , Turner Syndrome/genetics , Brazil , Epidemiologic Methods , GenotypeABSTRACT
Objective To explore the environmental risk factors,periconceptional folate intake and methylenetetrahydrofolate reduetase(MTHFR) gene C667T polymorphism of pregnant women on congenital heart diseases(CHD) in offspring.Methods Retrospective case-control study was carried out to investigate periconceptional folate supplementation and environmental factors in 98 parents with CHD offsprings and 101 parents with normal offsprings.The mothers'MTHFR gene C667T mutation was also identified.The possible risk factors were analyzed by simple and multiple factors Logistic regression methods.Results Six factors were related to the occurrence of CHD in the offspring:education of gestation mother,no prenatal examination,under depressed or nervous condition during pregnancy and maternal exposures to harmful substance;periconceptional folate and compound vitamin supplementation were protection factors.There were significant difference between case and control group in folate supplement(P
ABSTRACT
PURPOSE: Colon carcinogenesis seems to vary according to the original location of tumor, especially theright and the left sides. Two common methylenetetrahydrofolate reductase (MTHFR) polymorphisms, 677C->T and 1298A->C, are now known. Especially, the TT type of the 677C->T mutation shows reduced catalytic activity at a rate 30% that of wild type. The aim of this study is to investigate the distributions of MTHFR polymorphisms of 677C->T and 1298A->C according to the location of the colon cancer. METHODS: Blood samples were collected from 112 patients diagnosed in our hospital, as having colon cancer: 34 proximal and 78 distal cases to the splenic flexure and 448 healthy control subjects. In order to characterize MTHFR polymorphisms, we applied the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). RESULTS: The distributions of MTHFR 677C->T polymorphisms as genotypes CC, CT, and TT were 32.4%, 53.1%, and 14.5% in the control group, and 34.8%, 58.0%, and 7.1% in the cancer group (P=0.056). In the 34 proximal cancers, the CC, CT, and TT distributions were 44.1%, 55.9%, and 0% (PC polymorphism by genotypes, AA, AC, CC were 69.6%, 28.6%, and 1.8% in the control group, and 58.9%, 38.4%, and 2.7% in the cancer group. The proximal and the distal groups show genotype distributions of 44.1%, 53.0%, and 2.9% and 65.4%, 32.0%, and 2.6%, respectively, but the differences were not statistically significant. CONCLUSIONS: There are no definite differences between control subjects and colon-cancer patients in the two polymorphisms 677C->T and 1298A->C. However, the TT genotype shows a lower frequency in the cancer group than in the control group with a marginal statistical value (P=0.056), which suggest a reduced risk of cancer incidence for this type, compared with a CC or a CT type.
Subject(s)
Humans , Carcinogenesis , Colon , Colon, Transverse , Colonic Neoplasms , Genotype , Incidence , Methylenetetrahydrofolate Reductase (NADPH2)ABSTRACT
PURPOSE: Hyperhomocysteinemia was observed in epileptic patients receiving anticonvulsants, especially homozygotes for mtehylenetetrahydrofolate reductase (MTHFR) gene 677C->T mutation. Hyperhomocysteinemia induce atherosclerosis, fetal anticonvulsant syndrome, etc. Therefore, we examined any other factors that might affect the level of homocysteine in epileptic patients. METHODS: We investigated the plasma total homocysteine level in 145 patients with epilepsy. And then we analyzed various factors (clinical findings, neuro-image finding, drugs, MTHFR gene, serum folate and vitamin B12 level) affecting the level of homocysteine. RESULTS: Among the various factors, male, present neurological deficits, frequent seizure attacks, MTHFR gene 677 TT genotype, polypharmacy, and conventional drug (phenytoin, carbamazepine, valproic acid, phenobarbital, primidone, benzodiazpines) than new drug (lamotrigine, vigabatrin, topiramate, oxcarbazepine zonisamide) were related with elevated homocysteine levels. CONCLUSION: We recommend monotherapy with new drugs and higher vitamin requirement in the male epileptic patients of MTHFR TT genotype with neurological deficits and frequent seizure attacks.
Subject(s)
Humans , Male , Anticonvulsants , Atherosclerosis , Carbamazepine , Epilepsy , Folic Acid , Genotype , Homocysteine , Homozygote , Hyperhomocysteinemia , Oxidoreductases , Phenobarbital , Plasma , Polypharmacy , Primidone , Seizures , Valproic Acid , Vigabatrin , Vitamin B 12 , VitaminsABSTRACT
Objective In order to investigate plasma total homocysteine(tHCY) level,its influential factors,and the relationship between total homocysteine(tHCY)and N 5,N 10 -methylenetetrahydrofolate reductase(MTHFR) gene in hemodialysis patients.Method Pre-and posthemodialysis plasma tHCY and MTHFR genotype were measured by high performance liquid chromatography(HPLC) method and polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) method respectively,and dialysis related indexes were detected simultaneously.Results Plasma tHCY in hemodialysis patients was(28 4?5 8)?mol/L,and it was significantly higher than normal control(P