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Learn about Single Nucleotide Polymorphisms (SNPs) and their impact on protein function, enzyme kinetics, and health outcomes. Discover actionable insights on managing SNPs through supplementation to support optimal health.
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Genetics and Supplementation Dr. James Bogash Chiropractic Physician Publisher, Research Updates
“SNPs” • Single nucleotide polymorphism (SNP) • Base substitution in an gene coding for a specific protein • In most cases, locations don’t affect protein function • 600-1000 SNPs occur in clinically imp’t regions • Will affect the protein’s folding • Can result in slower or enhanced kinetics
SNPs - con’t • The limelight SNP • Methylene Tetrahydrofolate Reductase (MTHFR) 677 C to T • Varies heavily by origin of patient • Prevalence can be as high as 50% for heterozygozity, again depending on several factors • Activity can be reduced by 75% • Reduced active folic acid (tetrahydrofolate THF) • Deficiency ensues in rapidly dividing cells • Neural tube birth defects • Integral to methylation process • Essential for proper neurotransmitter function, cell division and protection of DNA from mutagens • 400 mcg folic acid in pregnancy can protect • Took 35 YEARS to make it to OB’s offices • Estimated 3 MILLLION birth defects occurred
Altered Enzyme Speed Normal Enzyme ABCDEF Usable “stuff” Sluggish Enzyme ABCDEM
Affecting Enzyme Kinetics • Enzyme kinetics can be modifiable • Michaelis-Menten enzyme kinetics • Amount of Vit / AA cofactors affects speed • Vit C is rate limiting enzyme in soft tissue healing • Prolyl-hydroxylase will slow w/o available Vit C • High amounts of precursor drives equation right • Incr likelihood substrate contacting binding site on enzyme • High folic acid speeds up sluggish MTHFR • Other compounds can slow down enzyme • LifeMap calls these SNP boosts • If not modifiable, give supportive nutrients
LIfeMap and SNPs • Genewize 12 SNP panel criteria • Valid – SNP is supported by solid, credible scientific evidence • Important – predicts biochemical processes that associate w/ significant, specific physiologic disadvantages • Frequent – frequency is relatively common among the general population • Actionable – negative potential can be modulated by nutritional means
SNPs checked • CoQ10 (NQO1) • Inflammation (TNF) • Oxidative stress (GPX1, SOD2) • Detoxification (EPHX1) • Vitamin D receptor (VDR) • Breakdown of cartilage and tendons (MMP1) • Methylation (MTHFR, MTRR) • Cholesterol (APOB, PON1) • Blood pressure (CYP11B2)
SNPs checked • Research added almost daily linking these SNPs and chronic disease • MTHFR 677 C to T , migraine, CVD (Neurology 8-2008) • Homozygous SNP in migraine w/ aura produce RR 3.66 for CVD, 4.19 for ischemic stroke • Association of paraoxonase gene cluster polymorphisms with ALS(Neurology 8-2008) • PON SNPs contribute to risk of ALS
Free Radicals / Oxidative Stress • Poor quality diet, toxins/heavy metals, emotional stress, processed foods, lack of exercise • Leads to mitochondrial dysfx • arguably, linked to every chronic dz
Free Radicals / Oxidative Stress • High redox potential protects mitochondria • ORAC used to compare • Not the total answer, but currently the best accepted method of comparison • With LifeMap, 5,200 to 9,000 ORAC value • FAR in excess of anything currently available • Uses patented Oxyphyte blends • http://www.rfiingredients.com/antioxidants.htm • In general, helps manage oxidative stress • Genetically can help manage disadvantages in the SOD2, GPX1 SNPs
Inflammation • Inflammation creates slow, gradual wearing and tearing of our bodies, our organs and our cells • Prescription and over the counter anti-inflammatories have serious side effects • NSAID mortality up to 21K / year alone • Renal, cardio, articular
Inflammation • Natural anti-inflammatories much safer but not as quick acting • Patented form of Cat’s Claw (UC 11) • Some small, early evidence that it actually protects DNA • Phytomedicine 2001;8:275-282 • J Ethnopharmacology 1999;69:115-126 • Phytother Res. 2006 Mar;20(3):178-83 (in-vitro)