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The MTHFR Gene and ASD: Unveiling the Genetic Puzzle

Have you heard about the MTHFR gene? It turns out this little gene plays a big role in our health! Decreased function of the MTHFR gene has been linked to a range of medical conditions, from neurological and cardiovascular disorders to diabetes and mental dysfunctions. But here's the latest discovery: a strong link has been found between MTHFR gene mutations and autism. It is common to see children affected by autism have a mutation of the MTHFR gene, which interferes with the body's ability to convert folate into methyl folate. Let's explore the connection between MTHFR and autism and see how this gene influences our health in unexpected ways!

MTHFR and autism

The MTHFR gene variations, specifically C677T and A1298C, can have diverse effects on individuals. Some people may carry these gene variants without showing any symptoms, remaining completely asymptomatic. The significance of the variations becomes evident when we consider their impact on crucial aspects of health and development.

The Role of MTHFR in Health Conditions

  1. Anxiety and Depression: Studies suggest that MTHFR gene variations may be associated with anxiety and depression. Proper methylation is vital for neurotransmitter function, which affects mood regulation.

  2. Cardiovascular Disease: The MTHFR gene is involved in processing homocysteine, and high homocysteine levels are associated with cardiovascular disease risk.

  3. Recurrent Pregnancy Loss & Infertility: MTHFR gene variants might influence pregnancy outcomes and fertility.

  4. Neural Tube Defects and Congenital Anomalies: Correct methylation is crucial for preventing neural tube defects during fetal development.

  5. Neurodevelopmental Disorders: The MTHFR gene's role in DNA and protein methylation could play a role in neurodevelopmental disorders like ASD, ADHD, and other psychiatric diseases.

  6. Certain Cancers: Some studies suggest a potential link between MTHFR gene variants and certain types of cancer.

MTHFR and Autism: Unraveling the Link

The relationship between the MTHFR gene and autism has become a topic of significant interest. Research has shown that the MTHFR C677T polymorphism is notably prevalent in individuals with autism spectrum disorder (ASD), while the role of the A1298C polymorphism requires further investigation.

Metabolic and genetic differences can vary among different subtypes of ASD, such as autistic disorder and Asperger's syndrome. For children with ASD and the C677T MTHFR polymorphism, certain levels of plasma methionine, plasma cysteine, and total blood glutathione were found to be reduced.

Moreover, intriguing studies have suggested that supplementing with methyl folate may lead to improvements in symptoms of aggression and disruptive behavior in children with autism who have the C677TT allele of the MTHFR gene. Additionally, MTHFR deficiency in mice has been linked to an increased risk of ASD-like behavior, and prenatal dietary intervention targeting MTHFR genotypes may potentially mitigate this risk. Furthermore, the supplementation of choline in adult offspring with MTHFR-positive mothers has shown promising effects on behavior and cortical marker levels, particularly in male mice.

These findings underscore the intricate relationship between the MTHFR gene, methylation processes, and autism. As research progresses, a deeper understanding of these connections may provide valuable insights into potential interventions and support for individuals with ASD.

Next Step

Encouraging a balanced and nutrient-rich diet can support methylation and overall health. Including foods rich in folate, vitamin B12, B6, and other essential nutrients can promote proper methylation processes. If you suspect that the MTHFR gene might be influencing your child's health or development, consult with healthcare professionals.


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Li Y, Qiu S, Shi J, Guo Y, Li Z, Cheng Y, Liu Y. Association between MTHFR C677T/A1298C and susceptibility to autism spectrum disorders: a meta-analysis. BMC Pediatr. 2020 Sep 24;20(1):449. doi: 10.1186/s12887-020-02330-3. PMID: 32972375; PMCID: PMC7517654.

Liew SC, Gupta ED. Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism: epidemiology, metabolism and the associated diseases. Eur J Med Genet. 2015 Jan;58(1):1-10. doi: 10.1016/j.ejmg.2014.10.004. Epub 2014 Nov 4. PMID: 25449138.

Sadeghiyeh T, Dastgheib SA, Mirzaee-Khoramabadi K, Morovati-Sharifabad M, Akbarian-Bafghi MJ, Poursharif Z, Mirjalili SR, Neamatzadeh H. Association of MTHFR 677C>T and 1298A>C polymorphisms with susceptibility to autism: A systematic review and meta-analysis. Asian J Psychiatr. 2019 Dec;46:54-61. doi: 10.1016/j.ajp.2019.09.016. Epub 2019 Sep 23. PMID: 31614268.

Siscoe KS, Lohr WD. L-Methylfolate supplementation in a child with autism and methyltetrahydrofolate reductase, enzyme gene C677TT allele. Psychiatr Genet. 2017 Jun;27(3):116-119. doi: 10.1097/YPG.0000000000000170. PMID: 28272116.

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