Genetic Testing

The human body has over 20,000-25,000 genes and over 325 million variants!1 Genetic testing is often recommended for children who are diagnosed with Autism to aid as a tool in identifying or ruling out the 10-15 percent of cases that are based on specific syndrome disorders (etc. Fragile X Syndrome). However, syndrome genes are not the only genes being looked at anymore for their impact on Autism and other neurodevelopment disorders2,3. Genes that impact methylation and detoxification like Methylenetetrahydrofolate -Reductase better known as MTHFR is being studied to see how it plays a role in Autism and over 60 other health conditions4.

MTHFR is a key regulatory enzyme that plays a critical role in methylation, folate, and homocysteine metabolism by helping to convert folic acid into folate (the natural form found in food) as well as B12 conversion and metabolism. Methylation has an important key role in the human body with DNA production, neurotransmitter production, detoxification (removal of heavy metals and toxins), histamine metabolism, estrogen metabolism, eye health, fat metabolism, cellular energy, and liver health. If methylation is inhibited or isn't working it can impact important molecules in the body to not work as efficiently3,5.

Similar to methylation, the metabolism and use of folate and B12 play a crucial role in brain development and function. In early stages of growth, disruption in methylation or deficiency in B12 and folate can lead to lasting consequences for children’s growth and cognitive development 6,7

 

But don't worry! There are ways to improve your methylation cycle! Diet adjustments, supplement changes, and knowing what foods to avoid is key in helping to promote proper methylation system. 

Types of Genes that impact Methylation

IL

NOS

GSR

CYP

GSTM

ODC

CBS

CYP

AGXT

MTHFR

SHMT

SULT

CYP

COMT

NAT

GSTM

GSS

GSTP

and more!

Want to learn more and get tested?

References

  1. https://www.genome.gov/about-genomics/fact-sheets/Genetics-vs-Genomic

  2. Lao JI. Autism Spectrum Disorders: an intervention approach based on genomic analysis.

Biology and Medicine. 2014;01(s1).

3. Leclerc D, Sibanis S, Rozen R. Molecular biology of Methylenetetrahydrofolate

Reductase (MTHFR) and overview of mutations/polymorphisms. Madame Curie

Bioscience Database. https://www.ncbi.nlm.nih.gov/books/NBK6561/. 2013.

4. https://www.healthline.com/health/mthfr-gene#testing

5.https://www.thorne.com/take-5-daily/article/what-is-methylation-and-why-should-you-care-about-it

6.Zhang Y, Hodgson NW, Trivedi MS, et al. Decreased brain levels of Vitamin B12 in aging,

Autism and Schizophrenia. Plos One. January 2016;11:1-19.

7.Black MM. Effects of Vitamin B12 and Folate deficiency on brain development in

children. Food and Nutrition Bulletin. 2008;29:126-131.

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