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Single nucleotide polymorphisms (SNPs) & Autism spectrum disorder (ASD)

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by difficulties in social communication and interaction, as well as repetitive behaviors and restricted interests. While the exact cause of ASD is unknown, genetics is known to play a significant role in its development. Single nucleotide polymorphisms (SNPs) are variations in DNA that can contribute to an individual’s susceptibility to ASD. Some of the SNPs associated with ASD include:

• MAO: Monoamine oxidase (MAO) is an enzyme that breaks down neurotransmitters such as dopamine, serotonin, and norepinephrine. SNPs in the MAO gene have been linked to altered neurotransmitter metabolism and an increased risk of ASD.

• COMT: Catechol-O-methyltransferase (COMT) is an enzyme that breaks down dopamine. SNPs in the COMT gene have been associated with altered dopamine metabolism and increased risk of ASD.

• VDR: The vitamin D receptor (VDR) is involved in the regulation of gene expression and immune function. SNPs in the VDR gene have been linked to altered immune function and increased risk of ASD.

• MTHFR: Methylenetetrahydrofolate reductase (MTHFR) is an enzyme involved in folate metabolism. SNPs in the MTHFR gene have been associated with altered folate metabolism and an increased risk of ASD.

• DAO: D-amino acid oxidase (DAO) is an enzyme that breaks down D-amino acids. SNPs in the DAO gene have been linked to altered neurotransmitter metabolism and increased risk of ASD.

• GAD: Glutamic acid decarboxylase (GAD) is an enzyme involved in the synthesis of the neurotransmitter GABA. SNPs in the GAD gene have been associated with altered GABA signaling and increased risk of ASD.

The mechanism of action of these SNPs involves alterations in neurotransmitter metabolism, immune function, and gene expression, leading to changes in neural circuitry and cognitive processes. In some cases, these changes can increase an individual’s susceptibility to ASD.

Several nutrients and supplements can be used to bypass or improve the dysfunction associated with these SNPs. For example:

• Folate: This nutrient is essential for DNA methylation and gene expression. Studies have shown that folate supplementation can improve symptoms of ASD in some individuals.

• Vitamin D: This nutrient is involved in immune function and brain development. Low levels of vitamin D have been linked to an increased risk of ASD.

• Omega-3 fatty acids: These essential fatty acids have been shown to improve cognitive function and reduce inflammation, which may benefit individuals with ASD.

• Probiotics: These beneficial bacteria can improve gut health and immune function, which may be beneficial for individuals with ASD.

In conclusion, SNPs can contribute to the development of ASD by altering neurotransmitter metabolism, immune function, and gene expression. Nutrients and supplements such as folate, vitamin D, omega-3 fatty acids, and probiotics can be used to bypass or improve the dysfunction associated with these SNPs. However, it is essential to consult with a healthcare professional before starting any supplementation regimen.

Sources:

  1. Saghazadeh, A., & Rezaei, N. (2017). Systematic review and meta-analysis of preclinical studies investigating the efficacy of vitamin D in autism. Journal of Psychopharmacology, 31(9), 1145-1157.
  2. Frye, R. E., Nankova, B., Bhattacharyya, S., Rose, S., Bennuri, S. C., MacFabe, D. F., & Hubanks, A. (2016). Modulation of immunological pathways in autistic and Neurotypical Lymphoblastoid Cell Lines by the Enteric Microbiome Metabolite Propionic Acid

Meet the Author

Dr. Matz DC

Dr. Jeffrey E. Matz, DC, MS, is a Board Certified Chiropractic Physician. He is licensed to practice in SC, NC, and GA. Dr. Matz is passionate about functional medicine and strives to help patients achieve optimal health. His focus is on helping our members with hormone imbalances, autoimmune conditions, chronic pain conditions, and diabetes. Among the thousands of people Dr. Matz has treated include Carolina Panthers football players, PGA Tour and Champions Tour golfers, collegiate athletes, and local and international celebrities. Dr. Matz was a semiprofessional cyclist, and has competed in triathlons for the last 7 years, including completing an IRONMAN triathlon.

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