Single Nucleotide Polymorphisms [SNPs]: Examples of how SNPs can be very different. 1. Frequently snps affect the function of an ENZYME 2. Can interfere with the function of a CARRIER PROTEIN 3. May interfere with the function of a RECEPTOR SITE 4. Heterozygous snps [+/-] are generally less bothersome than homozygous snps [+/+]. 5. Most often genetic snps SLOW DOWN the function of an enzyme. PICTURE: Genetic Inheritance…possibilities of inheritance 6. But some snps SPEED UP the function of an enzyme. EXAMPLE: Cystathionine Beta Synthase [CBS] C699T is the fastest up regulating CBS snp and taking too much Vitamin B6 [P5P] will just speed it up even more. Then, if the person also has a VDR Bsm snp that will potentially cause more Vitamin D 1,25 to be made. And, too much Vitamin D1,25 may cause additional copies of the CBS enzyme to be transcribed. More copies of the CBS enzyme will simply aggravate the situation. 7. Sometimes one snp affecting an upstream enzyme causes it to work faster and that will push another downstream enzyme that may be perfect and simply force it to do more work. EXAMPLE: Following the Cystathionine Beta Synthase [CBS] enzyme is the enzyme Cystathionine Gamma-Lyase [CGL] which produces converts CYSTATHIONINE into: CYSTEINE Alpha-Ketobutyrate Ammonia [NH4] If CGL is forced to work more then there will potentially be too much Ammonia [NH4]. Getting rid of AMMONIA uses up Tetrahydrobiopterin [BH4] which is a critical cofactor for other enzymes… When there is insufficient TETRAHYDROBIOPTERIN [BH4] this can cause: 1. More “FREE RADICALS” to be generated causing inflammation, tissue damage. 2. Reduced amounts of NEUROTRANSMITTERS will be made. 3. Vascular health suffers because Nitric Oxide [NO] is not appropriately produced. 8. Sometimes Single Nucleotide Polymorphisms [SNPs] dont cause any troubles at all. 9. Different combinations of SNPs found in the same Gene do not always affect the gene in exactly the same way. EXAMPLE: Some COMBINATIONS are particularly BAD when found together. The combination of Catechol-O-Methyl Transferase [COMT] V185M and H62H homozygous [+/+] snps is a rather severe set of mutations that causes about a 3-4 fold REDUCTION in the inactivation of the neurotransmitters Dopamine, Epinephrine (Adrenaline), and Norepinephrine from their neural synapses as well as causing difficulty inactivating ESTROGEN. 10. Different snps affecting the same gene can affect the function of the gene in totally different ways: EXAMPLES: Vitamin D Receptor [VDR] SNPs 1. VDR Taq…reduces the making of Dopamine and interferes with the transcription of genes needed for White Blood Cells to carryout important functions for the immune system. 2. VDR Bsm…speeds up the conversion of Vitamin D2, D3, D25 into the active form called Vitamin D 1,25. 3. VDR Fok…affects the body’s management of sugar [Metabolic Syndrome/ Diabetes] 11. Certain combinations of heterozygous [+/-] SNPs can be as troublesome as homozygous [+/+]. EXAMPLE: MTHFR C677T/A1298C is as troublesome as MTHFR C677T [+/+] 12. Variations in the combinations of SNPS within the same gene may cumulatively affect the function of the product of that gene.
Posted on: Sat, 24 Jan 2015 21:05:33 +0000
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