scholarly journals Methylene tetrahydrofolate reductase A1298C polymorphisms influence the adult sequelae of chemotherapy in childhood-leukemia survivors

PLoS ONE ◽  
2021 ◽  
Vol 16 (4) ◽  
pp. e0250228
Author(s):  
Iris Elens ◽  
Sabine Deprez ◽  
Thibo Billiet ◽  
Charlotte Sleurs ◽  
Veerle Labarque ◽  
...  
Keyword(s):  
Childhood Leukemia ◽  
Brain Connectivity ◽  
Correlation Study ◽  
Intrathecal Methotrexate ◽  
Induction Phase ◽  
Adult Age ◽  
Methylene Tetrahydrofolate Reductase ◽  
Adult Performance ◽  
Methylene Tetrahydrofolate ◽  
Performance Intelligence Quotient

This retrospective correlation study investigated the putative link between methylene tetrahydrofolate reductase (MTHFR) A1298C mutations and chemotherapy-related brain function changes in adult childhood-leukemia survivors. To this end, we determined the relationship between the particular MTHFR1298 genotype (AA, AC or CC) of 31 adult childhood-leukemia survivors, and (1) their CSF Tau and phosphorylated Tau (pTau) levels at the time of treatment, (2) their adult performance intelligence quotient (PIQ), and (3) their regional brain connectivity using diffusion magnetic resonance imaging (dMRI) and resting-state functional MRI (rsfMRI). We confirmed that neuropathology markers Tau and pTau significantly increased in CSF of children after intrathecal methotrexate administration. Highest concentrations of these toxicity markers were found during the induction phase of the therapy. Moreover, CSF concentrations of Tau and pTau during treatment were influenced by the children’s particular MTHFR1298 genotype. CSF Tau (but not pTau) levels significantly dropped after folinic acid supplementation. At adult age (on average 13.1 years since the end of their treatment), their particular MTHFR1298 genotype (AA, AC or CC) influenced the changes in PIQ and cortical connectivity that we found to be related to their childhood exposure to chemotherapeutics. In summary, we suggest that homozygous MTHFR1298CC individuals are more vulnerable to the adult sequelae of antifolate chemotherapy.

scholarly journals The association of methylene tetrahydrofolate reductase (MTHFR) A1298C gene polymorphism, homocysteine, vitamin B12, and folate with coronary artery disease (CAD) in the north of Iran

2020 ◽  
Vol 0 (0) ◽  
Author(s):  
Saeideh Amani ◽  
Ebrahim Mirzajani ◽  
Seyed Mehrdad Kassaee ◽  
Minoo Mahmoudi ◽  
Fardin Mirbolouk
Keyword(s):  
Coronary Artery Disease ◽  
Gene Polymorphism ◽  
Vitamin B12 ◽  
Control Group ◽  
Mthfr A1298c ◽  
Methylene Tetrahydrofolate Reductase ◽  
North Of Iran ◽  
A1298c Polymorphism ◽  
Methylene Tetrahydrofolate ◽  
Artery Disease

AbstractBackgroundWe pursued to find out the possible association of Methylene tetrahydrofolate reductase (MTHFR) A1298C gene polymorphism, blood homocysteine, vitamin B12, and folate with Coronary artery disease (CAD) in the study population in Guilan, north of Iran.Material and MethodsNinety patients with CAD and 76 healthy controls were evaluated. MTHFR A1298C polymorphism and its genotype frequency, the plasma level of homocysteine, vitamin B12 and folate were evaluated by using ARMS-PCR, ELISA, and Chemiluminescence methods, respectively.ResultsThe frequency of genotypes, A, AC and CC in CAD were 40, 35.6, 24.4%, respectively which was significantly different (p=0.016) from the control group that were 26.3, 57.9 and 15.8%, respectively. The serum level of vitamin B12 and folate in genotype A1298C were not statistically significant between two groups (p>0.05), however, the plasma homocysteine in patients with CAD was remarkably higher than the control group (p<0.001). Additionally, in CAD patients the plasma level of homocysteine in the AC genotype was significantly higher than the control subjects (p=0.005).ConclusionIt is thus concluded that MTHFR A1298C gene polymorphism is associated with CAD. It seems that the AC genotype of MTHFR A1298C polymorphism might have a protective effect on CAD.

À propos d'une observation de déficit en méthylène-tétrahydrofolate réductase avec hyperprotéinorachie

1996 ◽  
Vol 3 (9) ◽  
pp. 935
Author(s):  
E. Bernard ◽  
C. Largillière ◽  
J. Zittoun ◽  
F. Flament ◽  
P. Pernes ◽  
...  
Keyword(s):  
Methylene Tetrahydrofolate Reductase ◽  
Methylene Tetrahydrofolate

Correlation between methylene tetrahydrofolate reductase (MTHFR) gene rs1801133 C>T polymorphisms and risk of osteoporosis

Pteridines ◽  
2021 ◽  
Vol 32 (1) ◽  
pp. 117-125
Author(s):  
Xiao Chen ◽  
Weiran Zhang ◽  
Jingmin Huang
Keyword(s):  
Clinical Studies ◽  
Meta Analysis ◽  
Recessive Gene ◽  
Fixed Effect Model ◽  
Gene Model ◽  
Methylene Tetrahydrofolate Reductase ◽  
Effect Model ◽  
Increased Risk ◽  
Regression Test ◽  
Methylene Tetrahydrofolate

Abstract Objective To evaluate the correlation between methylene tetrahydrofolate reductase (MTHFR) gene rs1801133 C>T polymorphisms and risk of osteoporosis. Methods We searched the clinical studies related to MTHFR gene rs1801133 C>T polymorphisms and risk of osteoporosis in the electronic databases of PubMed, Web of Science, EMBASE, China National Knowledge Infrastructure (CNKI), Chinese BioMedical Literature Database (CBM) and included the suitable publications in the present meta-analysis according to the inclusion and exclusion criteria. The data of included studies were extracted and pooled by a random or fixed-effect model. The odds ratio (OR) and 95% confidence interval (95% CI) were applied to demonstrate the correlation between MTHFR gene rs1801133 C>T polymorphisms and the risk of osteoporosis. Publication bias was assessed by Begg’s funnel plot and Egger’s line regression test. Results Seven case–control clinical studies were included and a data combination was made. The data was pooled by the fixed effect model because of no obvious statistical heterogeneity. The pooled results indicated that people with the T allele had increased risk of developing osteoporosis under the homologous gene model (TT vs CC) (OR = 2.36, 95% CI: 1.81–3.08, p < 0.05), dominant gene model (TT + CT) vs CC (OR = 1.47, 95% CI: 1.21–1.77, p < 0.05) and recessive gene model TT vs (CC + CT) (OR = 2.16, 95% CI: 1.71–2.74, p < 0.05). Egger’s line regression test indicated no significant publication bias for the present meta-analysis in the above homologous, dominant, and recessive gene models. Conclusion The MTHFR gene rs1801133 C>T polymorphisms are associated with osteoporosis and subjects with the T allele have an increased risk of developing osteoporosis.

scholarly journals Nutritional status and physical activity of childhood leukemia survivors

2014 ◽  
Vol 54 (2) ◽  
pp. 67
Author(s):  
Conny Tanjung ◽  
Johannes Bondan Lukito ◽  
Prima Dyarti Meylani
Keyword(s):  
Physical Activity ◽  
Nutritional Status ◽  
Childhood Leukemia ◽  
Lymphoblastic Leukemia ◽  
Induction Phase ◽  
Childhood All ◽  
Increased Risk ◽  
Long Term Survivors ◽  
First Time

Background Acute lymphoblastic leukemia (ALL), the mostcommon malignancy of childhood, has an overall cure rate ofapproximately 80%. Long-term survivors of childhood ALL areat increased risk for obesity and physical inactivity that may leadto the development of diabetes, dyslipidemia, metabolic syndrome,as well as cardiovascular dis eases, and related mortality in theyears following treatment.Objective To evaluate the physical activity and the propensityfor developing obesity longer term in ALL survivors.Methods This retrospective cohort study included all ALLsurvivors from Pantai Indah Kapuk (PIK) Hospital. We assessedtheir physical activity and nutritional status at the first time ofALL diagnosis an d at the time of interview.Results Subjects were 15 ALL survivors aged 7 to 24 years. Themedian fo llow up time was 6.4 years (range 3 to 10 years). Only2 out of 15 survivors were overweight and n one were obese.All survivors led a sedentary lifestyle. Most female subjectshad increased BMI, though most were not overweight/obese.Steroid therapy in the induction phase did not increase the riskof developing obesity in ALL survivors.Conclusion Lon g-term survivors of childh ood ALL do not meetphysical activity recommendations according to the CDC (Centersfor Disease Control). Howevei; steroid therapy do not seem tolead to overweight/obesity in ALL survivors.

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