Extra Chromosome & Absent Enzyme; A look at Down Syndrome and MTHFR

Down Syndrome is a genetic mutation identified by an extra 21st chromosome. MTHFR is a genetic mutation identified by the absence of a vital enzyme essential for folate metabolism. There is an intimate connection between these 2 conditions, and by identifying MTHFR in children with Down Syndrome risks for many co-morbid conditions can be reduced or eliminated. Contributing Factors • Environmental and Maternal Disposition. There has been recent research showing there is a higher incidence of children with Down syndrome born to mothers that are positive for MTHFR. Multiple polymorphisms were identified in this study which simply correlates the association. Practically speaking MTHFR mutations are seen in elevated levels in autism, spina bifida, fetal cardiac defects and Down syndrome. However, to solely implicate genetics in any medical condition is bad medicine. The environment plays such a large role in influencing our genes. Because of the role that MTHFR plays in folate metabolism and Homocysteine metabolism this association bears regard and acknowledgement. It has been well researched that Children with Down Syndrome have higher incidences of: Midline Development Issues • Heart defects. Almost one-half of babies with Down syndrome have congenital heart disease, the most common type of birth defect. MTHFR mutations are associated with a higher incidence of Heart Defects. MTHFR effects “midline development” the heart is an organ that develops form the midline in utero. • Hypothyroidism. Occurs more often in children with Down syndrome than in children without Down syndrome. Close evaluation of thyroid health, diet, supplements and possibly medication can assist in balancing this condition. Again, the thyroid is developed from the “midline” embryonic tissue. The same layer that is effected by the presence of MTHFR mutations. Research shows us children with Down syndrome are born to mothers with MTHFR mutations themselves. Genetics, and an extra chromosome leads to a much higher incidence of hypothyroidism. • Dental problems. Children with Down syndrome generally have a higher palate. This changes the landscape of the mouth and jaw and can cause teeth and speech development that differs from what is expected. Gum disease, is also very common. Gum Disease is well studied as a problem with digestion, bacteria imbalance and nutrient deficiency. MTHFR mutations are closely correlated with dental problems. Again, the gums and teeth develop from the “midline” during pregnancy. MTHFR mutations cause an “inefficiency” of folate metabolism. When this system is impaired the body uses additional vitamins and minerals (stored in the teeth and bones) to properly run its cycles. If nutrient levels are lower that the body’s demand the teeth and gums will suffer. Sense Organs Issues • Vision problems. More than 60% of children with Down syndrome have vision problems. MTHFR defects can affect the eye. The vessels of the eye are so small that any kind of inflammation or excessive toxicity can “get stuck” in the small vessels of the eye and effect vision. • Hearing loss. About 75% of children with Down syndrome have some hearing loss, sometimes because of problems with ear structures. Children with Down syndrome also tend to get a lot of ear infections, due to narrow canals and anatomic variation which should be watched closely. MTHFR is more highly associated with sensory issues associated with hearing impairments.

In conclusion Down syndrome and MTHFR are closely related and treating and supporting proper functioning of the MTHFR enzyme can dramatically improve outcomes or assist to avoid complications kids with Down syndrome may occur in their lifetime. ________________________________________ 1. Bull, M. J., & the Committee on Genetics. (2011). Health supervision for children with Down syndrome. Pediatrics, 128, 393–406. [top] 2. So, S. A., Urbano, R. C., & Hodapp, R. M. (2007) Hospitalizations of infants and young children with Down syndrome: Evidence from inpatient person-records from a statewide administrative database. Journal of Intelle 3. Hardy, O., Worley, G., Lee, M. M., Chaing, S., Mackey, J., Crissman, B., et al. (2004). Hypothyroidism in Down syndrome: screening guidelines and testing methodology. American Journal of Medical Gen 4