The effect of the MTHFR C677T mutation on athletic performance and the homocysteine level of soccer players and sedentary individuals

Abstract This study investigated athletic performance and homocysteine (Hcy) levels in relation to the methylenetetrahydrofolate reductase (MTHFR) C677T mutation and explored the relationship between this mutation and other cardiac risk factors in soccer players and sedentary individuals. The study groups consisted of randomly selected soccer players (n=48) from the Turkish Super and Major League and sedentary male students (n=48) aged 18-27. Anthropometric variables, aerobic and anaerobic thresholds were measured, furthermore, biochemical assays were performed. The level of HDL cholesterol, LDL cholesterol, triglyceride, Hcy, folate, vitamin B12, hemogram and MTHFR C677T was investigated. The results showed that there was a statistical difference between the two groups in terms of body mass, body fat, the BMI, the aerobic threshold heart rate (ATHR), aerobic threshold velocity (ATVL) and anaerobic threshold velocity (ANTVL). The soccer players were found to have lower levels of triglyceride, total cholesterol and LDL cholesterol, and higher levels of folate than the sedentary participants. The analysis of the alleles of the MTHFR C677T polymorphism showed that the participants that carried TT genotypes had a lower level of vitamin B12 and folate, and a higher level of Hcy than the participants carrying CC and CT genotypes. In conclusion, the baseline homocysteine and cardiovascular fitness levels of healthy young males with the TT genotypes of the MTHFR C677T genotype were found to strongly correlate with their levels of Hcy.

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Hyperhomocysteinemia and C677T Polymorphism of Methylenetetrahydrofolate Reductase Gene in Patients with Cardiovascular Disease

Pteridines ◽

10.1515/pteridines.2010.21.1.103 ◽

2010 ◽

Vol 21 (1) ◽

pp. 103-109

Author(s):

Zahira Houcher ◽

Bakhouche Houcher ◽

Abderezak Touabti ◽

Samia Begag ◽

Ayşenur Öztürk ◽

...

Keyword(s):

Cardiovascular Disease ◽

Methylenetetrahydrofolate Reductase ◽

Mthfr C677t ◽

C677t Polymorphism ◽

Old Patients ◽

Mthfr C677t Polymorphism ◽

Plasma Thcy ◽

C677t Mutation ◽

Total Homocysteine ◽

And Gender

Abstract The aim of the present study was to explore the influence of age and gender, on the association between the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and plasma total homocysteine (tHcy) concentrations in patients with cardiovascular disease (CVD). Fasting tHcy and the MTHFR C677T mutation were evaluated in 98 patients with CVD, 46 were men and 52 women (aged 20-96 years). There was a significant elevation of plasma tHcy with age (<45 yr: 33.9 μmol/L vs. >75 yr: 43.6 μmol/L; p <0.01). The mean tHcy concentration increased significantly with age in men (<55 yr: 33.4 μmol/L vs. >55yr: 42.45 μmol/L; p 0.01). However, the plasma tHcy was not increased with older age in women. The frequency of the TT genotype was 19.6% in the younger patients group (>55 yr) compared with 4.7% in the older patients group (>55 yr; p <0.01). In conclusion, the data presented here are consistent with genetic factors that influence tHcy levels being more prominent in old patients (>55 yr). Then, the MTHFR mutation does not seem to be associated with either high tHcy or the occurrence of CVD.

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Supplementation with Watermelon Extract Reduces Total Cholesterol and LDL Cholesterol in Adults with Dyslipidemia under the Influence of the MTHFR C677T Polymorphism

Journal of the American College of Nutrition ◽

10.1080/07315724.2015.1065522 ◽

2016 ◽

Vol 35 (6) ◽

pp. 514-520 ◽

Cited By ~ 14

Author(s):

Nayara M. L. Massa ◽

Alexandre S. Silva ◽

Caio V. C. de Oliveira ◽

Maria J. C. Costa ◽

Darlene C. Persuhn ◽

...

Keyword(s):

Total Cholesterol ◽

Ldl Cholesterol ◽

Mthfr C677t ◽

C677t Polymorphism ◽

Mthfr C677t Polymorphism

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Effect of Folate, Vitamin B6, and Vitamin B12 Intake and MTHFR C677T Polymorphism on Homocysteine Concentrations of Renal Transplant Recipients

Transplantation Proceedings ◽

10.1016/j.transproceed.2007.08.098 ◽

2007 ◽

Vol 39 (10) ◽

pp. 3163-3165 ◽

Cited By ~ 3

Author(s):

P.M. Biselli ◽

M.P. Sanches de Alvarenga ◽

M. Abbud-Filho ◽

M.A.S. Ferreira-Baptista ◽

A.L.S. Galbiatti ◽

...

Keyword(s):

Renal Transplant ◽

Vitamin B12 ◽

Vitamin B6 ◽

Mthfr C677t ◽

Renal Transplant Recipients ◽

C677t Polymorphism ◽

Transplant Recipients ◽

Mthfr C677t Polymorphism

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Subacute Combined Degeneration Associated with Methylenetetrahydrofolate Reductase (MTHFR) C677T Polymorphism

Journal of the Korean Neurological Association ◽

10.17340/jkna.2021.4.17 ◽

2021 ◽

Vol 39 (4) ◽

pp. 359-361

Author(s):

Yun Hyeong Jeong ◽

Suho Ro ◽

Soei Ann ◽

Sumin Kim ◽

Bum Chun Suh

Keyword(s):

Metabolic Disease ◽

Enzyme Activity ◽

Vitamin B12 ◽

Methylenetetrahydrofolate Reductase ◽

Mthfr C677t ◽

C677t Polymorphism ◽

Subacute Combined Degeneration ◽

Mthfr C677t Polymorphism ◽

Normal Enzyme ◽

Genetic Problem

Subacute combined degeneration (SCD) is a metabolic disease caused by deficiency of vitamin B12. Rarely, it could be associated with genetic problem. An old male presented with progressive both hands weakness. Laboratory study showed deficiency of vitamin B12, but the cause was not clear. We performed a genetic study and methylenetetrahydrofolate reductase (MTHFR) C677T homozygous polymorphism with 30% of normal enzyme activity was confirmed. This case suggests SCD may occur in association with a genetic problem with MTHFR C677T polymorphism.

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Hyperhomocysteinaemia, low folate concentrations and MTHFR C677T mutation in abdominal aortic aneurysm

VASA ◽

10.1024/0301-1526/a000347 ◽

2014 ◽

Vol 43 (3) ◽

pp. 181-188 ◽

Cited By ~ 7

Author(s):

Hui Cao ◽

Xinhua Hu ◽

Qiang Zhang ◽

Jun Li ◽

Bing Liu ◽

...

Keyword(s):

Abdominal Aortic Aneurysm ◽

Folic Acid ◽

Aortic Aneurysm ◽

Vitamin B12 ◽

Gene Mutation ◽

Plasma Levels ◽

Mthfr C677t ◽

Mthfr Gene ◽

Abdominal Aortic ◽

C677t Mutation

Background: Homocysteine (Hcy) has been implicated in abdominal aortic aneurysm (AAA). However, the association of Hcy, vitamin B12, and folate in patients with AAA has not been studied in China. This study was conducted with the aim to evaluate the relationship of vitamin B12, folic acid, and Hcy levels in AAA. Patients and methods: 463 patients who had AAA were included in this study. 463 control subjects were age- and sex-matched with the patients. In all of the subjects, we evaluated total plasma levels Hcy, vitamin B12, folic acid and the distribution of the C677T methylenetetrahydrofolate reductase (MTHFR) gene mutation. Results: The mean plasma Hcy levels were significantly higher in patients with AAA compared with controls (18.37 ± 6.97 vs. 12.89 ± 4.08 μmol/L, P < 0.001). The frequency of homozygous (TT) genotype in MTHFR C677T mutation was significantly higher in patients with AAA than that in control subjects (19.4 % vs. 11.9 %, P = 0.002). The fasting Hcy correlated negatively with folate (A r = - 0.311, P < 0.01; Control: r = - 0.348, P < 0.01). The aneurysm size was significantly greater (P < 0.001) in patients with hyperhomocysteinemia than that in patients with normal Hcy plasma levels. The size of the AAA had a linear correlation with the plasma Hcy level (r = 0.286; P< 0.001). Conclusions: Serum folate deficiency and hyperhomocysteinemia were associated with an increased risk of AAA in Northeast China. The homozygous (TT) genotype of MTHFR gene mutation may be a crucial hereditary risk factor in AAA.

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High frequency of vitamin B12 deficiency in asymptomatic individuals homozygous to MTHFR C677T mutation is associated with endothelial dysfunction and homocysteinemia

AJP Heart and Circulatory Physiology ◽

10.1152/ajpheart.01189.2006 ◽

2007 ◽

Vol 293 (1) ◽

pp. H860-H865 ◽

Cited By ~ 14

Author(s):

E. Zittan ◽

M. Preis ◽

I. Asmir ◽

A. Cassel ◽

N. Lindenfeld ◽

...

Keyword(s):

Folic Acid ◽

Endothelial Dysfunction ◽

Endothelial Function ◽

Vitamin B12 ◽

Acid Treatment ◽

Vitamin B12 Deficiency ◽

Mthfr C677t ◽

C677t Mutation ◽

B12 Deficiency ◽

Asymptomatic Individuals

The aim of this study was to examine the association of homozygosity for the methylenetetrahydrofolate reductase (MTHFR) C677T mutation and vitamin B12 deficiency in 360 asymptomatic individuals and to investigate forearm endothelial function in C677T homozygotes. MTHFR C677T mutation and levels of vitamin B12, folic acid, and homocysteine were measured in study participants. Frequency of homozygosity for the C677T mutation was 67/360 (18.6%). Homocysteine levels were elevated in homozygous compared with heterozygous subjects or those without the mutation (20.6 ± 18.8 vs. 9.4 ± 3.2 μmol/l; P < 0.0001). The number of subjects with vitamin B12 deficiency (<150 pmol/l) was significantly higher among the homozygote than the heterozygote subjects or subjects without mutation [20/67 (29.8%) vs. 27/293 (9.2%); P < 0.0001]. Homozygote subjects had 4.2 times higher probability of having B12 deficiency (95% confidence interval = 2.1–8.3). Forearm endothelial function was assessed in 33 homozygote and 12 control subjects. Abnormal endothelial function was observed in homozygous subjects and was worse in homozygote subjects with vitamin B12 deficiency. Endothelial function was normalized after B12 and folic acid treatment. We found that homozygosity for the C677T mutation is strongly associated with B12 deficiency. Coexistence of homozygosity for the C677T mutation and B12 deficiency is associated with endothelial dysfunction and can be corrected with vitamin B12 and folic acid treatment.

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Diabetic neuropathy is not associated with homocysteine, folate, vitamin B12 levels, and MTHFR C677T mutation in type 2 diabetic outpatients taking metformin

Journal of Endocrinological Investigation ◽

10.1007/s40618-015-0365-9 ◽

2015 ◽

Vol 39 (3) ◽

pp. 305-314 ◽

Cited By ~ 19

Author(s):

G. T. Russo ◽

A. Giandalia ◽

E. L. Romeo ◽

C. Scarcella ◽

N. Gambadoro ◽

...

Keyword(s):

Diabetic Neuropathy ◽

Vitamin B12 ◽

Mthfr C677t ◽

C677t Mutation ◽

Type 2 Diabetic

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Hyperhomocysteinemia is Associated with Inflammation, Bone Resorption, Vitamin B12 and Folate Deficiency and MTHFR C677T Polymorphism in Postmenopausal Women with Decreased Bone Mineral Density

International Journal of Environmental Research and Public Health ◽

10.3390/ijerph17124260 ◽

2020 ◽

Vol 17 (12) ◽

pp. 4260 ◽

Cited By ~ 6

Author(s):

Massimo De Martinis ◽

Maria Maddalena Sirufo ◽

Cristina Nocelli ◽

Lara Fontanella ◽

Lia Ginaldi

Keyword(s):

Bone Mineral Density ◽

Bone Resorption ◽

Bone Turnover ◽

Vitamin B12 ◽

Postmenopausal Women ◽

Postmenopausal Osteoporosis ◽

Mthfr C677t ◽

C677t Polymorphism ◽

Mineral Density ◽

Mthfr C677t Polymorphism

Osteoporosis is an age-related bone disease, affecting mainly postmenopausal women, characterized by decreased bone mineral density (BMD) and consequent risk of fractures. Homocysteine (Hcy), a sulfur-aminoacid whose serum level is regulated by methylenetrahydrofolate reductase (MTHFR) activity and vitamin B12 and folate as cofactors, is a risk factor for inflammatory diseases. Literature data concerning the link between Hcy and osteoporosis are still debated. The aim of our study was to assess the relationship among Hcy and BMD, inflammation, vitamin status and bone turnover in postmenopausal osteoporosis. In 252 postmenopausal women, BMD was measured by dual-energy X-ray absorptiometry (DXA). In addition to serum Hcy, erythrocyte sedimentation rate (ESR), C-reactive protein (CRP) and bone turnover markers (bone alkaline phosphatase-BAP, osteocalcin-OC, C-terminal telopeptide of type I collagen (CTX), vitamin deficiencies and MTHFR-C677T polymorphism were evaluated. Hcy, inflammation, bone resorption markers and prevalence of C677T polymorphism were higher, whereas vitamin D, B12, folate, and bone formation markers were lower in women with decreased BMD compared to those with normal BMD. Our results suggest a significant association between Hcy, BMD and inflammation in postmenopausal osteoporosis. The regulation of Hcy overproduction and the modulation of the inflammatory substrate could represent additional therapeutic approaches for osteoporosis prevention.

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C677T Methylenetetrahydrofolate Reductase and Plasma Homocysteine Levels among Thai Vegans and Omnivores

International Journal for Vitamin and Nutrition Research ◽

10.1024/0300-9831/a000148 ◽

2013 ◽

Vol 83 (2) ◽

pp. 86-91 ◽

Cited By ~ 2

Author(s):

Saowanee Kajanachumpol ◽

Kalayanee Atamasirikul ◽

Phieuvit Tantibhedhyangkul

Keyword(s):

Vitamin B12 ◽

Methylenetetrahydrofolate Reductase ◽

Vitamin B12 Deficiency ◽

Mthfr C677t ◽

Mthfr Gene ◽

Serum Folate ◽

Geometric Means ◽

C677t Mutation ◽

B12 Deficiency ◽

Mthfr Mutation

Hyperhomocysteinemia among vegetarians and vegans is caused mostly by vitamin B12 deficiency. A C-to-T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene results in a thermolabile MTHFR, which may affect homocysteine (Hcy) levels. The importance of this gene mutation among populations depends on the T allele frequency. Blood Hcy, vitamin B12, folate, vitamin B6, and MTHFR C677T mutation status were determined in 109 vegans and 86 omnivores aged 30 - 50 years. The vegans had significantly higher Hcy levels than the omnivores, geometric means (95 % CI) 19.2 (17.0 - 21.7) µmol/L vs. 8.53 (8.12 - 8.95) µmol/L, p < 0.001. A C-to-T mutation in the vegans increased plasma Hcy, albeit insignificantly; geometric means 18.2 µmol/L, 20.4 µmol/L, and 30.0 µmol/L respectively in CC, CT, and TT MTHFR genotypes. There was also a significant decrease in serum folate; geometric means 12.1 ng/mL, 9.33 ng/mL, and 7.20 ng/mL respectively, in the CC, CT, and TT mutants, p = 0.006, and particularly, in the TT mutant compared with the CC wild type, 7.20 ng/mL vs. 12.1 ng/mL, p = 0.023. These findings were not seen in the omnivores. It was concluded that hyperhomocysteinemia is prevalent among Thai vegans due to vitamin B12 deficiency. C-to-T MTHFR mutation contributes only modestly to the hyperhomocysteinemia.

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The Different Relationship between Homocysteine and Uric Acid Levels with Respect to the MTHFR C677T Polymorphism According to Gender in Patients with Cognitive Impairment

Nutrients ◽

10.3390/nu12041147 ◽

2020 ◽

Vol 12 (4) ◽

pp. 1147

Author(s):

Hee-Jin Kim ◽

Il Woong Sohn ◽

Young Seo Kim ◽

Jae-Bum Jun

Keyword(s):

Uric Acid ◽

Cognitive Impairment ◽

Folic Acid ◽

Vitamin B12 ◽

Dietary Intervention ◽

Methylenetetrahydrofolate Reductase ◽

Mthfr C677t ◽

Vascular Lesion ◽

C677t Polymorphism ◽

Mthfr C677t Polymorphism

In an elderly population with cognitive impairment, we investigated the association between serum uric acid (sUA) and serum homocysteine (sHcy), known risk factors for cerebrovascular disease. We also investigated the potential effect of the C677T polymorphism in the gene encoding methylenetetrahydrofolate reductase (MTHFR) to the sUA level in different dementia types. Participants underwent a battery of tests including measurements of sUA, sHcy, folic acid, and vitamin B12 as well as genotyping of the MTHFR locus. Data from 861 subjects (597 females to 264 males) were retrospectively analyzed. Subjects with hyperhomocysteinemia had lower serum folic acid and vitamin B12 and higher sUA than those with normal sHcy. sUA was significantly associated with serum creatinine, HbA1c, and sHcy regardless of gender. The TT genotype was found to be associated with hyperhomocysteinemia in both genders (p = 0.001). The levels of hyperlipidemia, sHcy, and sUA differed according to dementia subtypes. High sUA were associated with hyperhomocystenemia in TT genotype only in dementia with vascular lesion. This study reveals that sUA is positively associated with sHcy. We speculate that the two markers synergistically increase cerebrovascular burden and suggested that dietary intervention for sUA and sHcy would be helpful for cognitive decline with vascular lesion.

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