Introduction: MTHFR being a key regulatory enzyme of 1-carbon metabolism pathway serves critical function of generation of SAM, replenishment of glutathione and nucleotide synthesis and finally methylation of the bio molecules. MTHFR gene mutation is a rare au-tosomal recessive inborn error of metabolism and presents with severe hyperhomocysteinemia. MTHFR polymorphisms on the other hand are commonly encountered of which two 677 C>T and 1298 A>C have been most widely studied and reported to increase the vulnerability to neural tube defects, congenital heart disease, various neuropsychiatric disorders like autism spectrum diseases and attention deficit hyperactiv-ity disease, cleft lip/ palate, acute leukaemia, cardiovascular diseases, occlusive vascular disease in children.
Methods: We conducted this prospective clinical trial to examine whether yoga practice can up regulate MTHFR gene expression. Considering the prevalence of MTHFR polymorphism, varied spectrum of its implications in disease causation including male infertility, we conducted the trial involving 30 infertile men who underwent 3 weeks of supervised YBLI. Pre and post intervention assessment of the blood and semen sample was done to see the effects.
Results: We have found more than fivefold up-regulation in the expression of MTHFR gene with significant reduction of seminal free radical levels after 3 weeks of yoga practice. Interestingly we noticed significantly higher MTHFR polymorphic variants in infertile male patients compared to healthy fertile controls.
Conclusion: MTHFR polymorphisms are also independently associated with many paediatric diseases. Diagnosing MTHFR deficiency in children is a challenging job and requires high index of suspicion and continuous vigilance. Yoga based lifestyle may be adopted both by parents planning conception and also by adolescent children who are sufferers of this condition to halt the consequences of mild to moderate MTHFR deficiency.
Keywords: Folate-homocystine Metabolism; MTHFR; MTHFR Polymorphism; Oxidative stress; Yoga.