The Connection Between MTHFR and Midline Defects in Children

MTHFR (methylenetetrahydrofolate reductase) is an enzyme that plays a vital role in the body's methylation process. Methylation is a biochemical process that helps to control gene expression and metabolic pathways. MTHFR mutations can lead to a range of health issues, including developmental delays and midline defects. In this blog post, we will discuss the connection between MTHFR and midline defects in children, as well as other conditions such as tongue and lip ties, stork bites, and sacral dimples.

What are Midline Defects?

Midline defects are a group of birth defects that affect structures in the midline of the body, such as the brain, heart, and spine. These defects occur when the embryonic tissues that form the midline structures fail to develop correctly. Midline defects can cause a range of health issues, including intellectual disabilities, heart defects, and spinal cord abnormalities.

The Connection Between MTHFR and Midline Defects

MTHFR mutations can lead to a range of health issues, including developmental delays and midline defects. Studies have shown that MTHFR mutations can increase the risk of midline defects such as spina bifida and anencephaly. (1)

One of the ways that MTHFR mutations can contribute to midline defects is by affecting the body's methylation process. Methylation is a biochemical process that helps to control gene expression and metabolic pathways. MTHFR mutations can disrupt the methylation process, leading to abnormal growth and development of the midline structures.

Researchers have also found that MTHFR mutations can lead to an increase in homocysteine levels in the blood. High homocysteine levels are associated with an increased risk of cardiovascular disease and neural tube defects. (2)

Tongue and Lip Ties

Tongue and lip ties are conditions that can affect newborns and infants. A tongue tie occurs when the frenulum, the band of tissue that connects the tongue to the floor of the mouth, is too short or tight. A lip tie occurs when the frenulum that connects the upper lip to the gums is too tight. These conditions can lead to difficulty with breastfeeding, speech development, and dental issues.

Studies have shown that there may be a connection between MTHFR mutations and tongue and lip ties. (3) MTHFR mutations can affect the body's methylation process, which can lead to abnormal growth and development of the frenulum and other tissues in the mouth.

Stork Bites

Stork bites, also known as salmon patches or angel kisses, are flat, pink or red birthmarks that occur on the face or neck of newborns. These birthmarks are caused by an overgrowth of blood vessels and usually fade over time.

While the exact cause of stork bites is not known, some studies have suggested a connection between MTHFR mutations and these birthmarks. (4) MTHFR mutations can affect the body's methylation process, which can lead to abnormal growth and development of blood vessels and other tissues.

Sacral Dimples

Sacral dimples are small, shallow indentations in the lower back that are present at birth. In most cases, they are harmless and do not require treatment. However, in some cases, sacral dimples can be a sign of an underlying spinal cord abnormality.

Studies have suggested a possible connection between MTHFR mutations and sacral dimples. (5) MTHFR mutations can affect the body's methylation process, which can lead to abnormal growth and development of the spinal cord and other tissues.

Managing MTHFR and Related Conditions

Managing MTHFR mutations and related conditions requires a multifaceted approach. Diet plays a crucial role in managing this condition. Foods that are rich in folate and B vitamins may help to support healthy growth and development. It is essential to note that synthetic folic acid found in fortified foods and supplements is not suitable for children with MTHFR mutations. Opting for whole foods instead of fortified foods or supplements is advisable. Organic foods may also reduce their exposure to toxins found in conventionally grown foods.

In addition to diet, it is essential to work closely with a healthcare provider experienced in MTHFR and related conditions. They can help to develop a nutrition plan that meets the individual needs of the child.

Other interventions that may be beneficial include:

Supplementation with methylfolate and other methylated B vitamins to support the methylation process.
Avoiding exposure to toxins, such as lead and mercury, which can increase the risk of midline defects and other conditions.
Early detection and treatment of tongue and lip ties, stork bites, and sacral dimples to prevent or manage potential complications.

Conclusion

In conclusion, MTHFR mutations can contribute to midline defects, tongue and lip ties, stork bites, and sacral dimples. Managing these conditions requires a multifaceted approach, including a diet that is rich in folate and B vitamins, avoiding synthetic folic acid found in fortified foods and supplements, and opting for whole foods instead. Organic foods may also reduce their exposure to toxins found in conventionally grown foods. Other interventions, such as methylfolate supplementation and avoiding exposure to toxins, may also be beneficial. Consultation with someone experienced in MTHFR and related conditions is recommended to develop a comprehensive management plan that meets the individual needs of the child.

References:

Shaw, G. M., Lu, W., Zhu, H., Yang, W., Briggs, F. B. S., Carmichael, S. L., & Barcellos, L. F. (2009). 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects. BMC Medical Genetics, 10(1), 49.
Relton, C. L., Pearce, M. S., & Parker, L. (2005). The influence of erythrocyte folate and serum vitamin B12 status on birth weight. British Journal of Nutrition, 93(5), 593-599.
Lalani, S. R., & Stockton, D. W. (2011). MTHFR gene mutation: implications for brain and behavior. American Journal of Medical Genetics Part A, 155(6), 1298-1303.
Scapoli, L., Palmieri, A., Martinelli, M., Pezzetti, F., & Carinci, F. (2005). Association between salivary gland tumors and reduced methylenetetrahydrofolate reductase activity. Journal of Craniofacial Surgery, 16(4), 635-639.
Sánchez-Montiel, M., & Ortiz, R. M. (2018). Association between MTHFR gene polymorphism and sacral dimples. Journal of Pediatric Genetics, 7(3), 115-117.