It is all very groundbreaking stuff. Most doctors probably would not even know where to start and how to read these tests.
These are all methylation genes. The red are full mutations. The yellow are SNPs with risk allele. The green are normal/good.
My results really don’t mean anything unless we can compare them to other PFSers results and try to find common mutations…
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[Size=4] ACE Gene[/size]
rs4343 - ACE Del16 (Use this substitute SNP as a very reliable proxy.) (Risk Allele: G)
This enzymes leads to high levels of angiotensin II which causes an increase in aldosterone. High aldosterone leads to increase potassium loss in the urine and increased sodium retention. Animal studies show a correlation between high angiotensin II with increased anxiety and decreased learning and memory. Decreased potassium can lead to fatigue and decreased energy production as cellular membrane activation, particularly for the brain and peripheral nervous system is dependent upon sodium:potassium balance. Blood pressure regulation as well. Low frustration threshold. Increased anxiety. Worsened by stress. An MAO-A mutation makes this worse. The ACE Del16 mutation may have been removed from Yasko’s current genetic tests.
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[Size=4]COMT Gene[/size]
rs4680 - COMT V158M (Risk Allele: A)
rs4633 - COMT H62H (Risk Allele: T)
rs769224 - COMT P199P (Risk Allele: A)
This gene helps break down dopamine and norepinephrine. A defect will cause higher dopamine due to slower breakdown. Implicated in ADD/ADHD. More susceptible to dopamine fluctuations, therefore mood wings. People without COMT mutations are generally more even tempered.
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[Size=4]VDR Gene[/size]
rs1544410 - VDR Bsm (Risk Allele: T)
rs731236 - VDR Taq (Risk Allele: G)
rs10735810 - VDR Fok (Risk Allele: T, 23andMe: A)
Vitamin D receptor. VDR Fok is involved with Blood sugar regulation. VDR mutations oppose COMT mutations in the regulation of dopamine levels. A VDR mutation means that a person is less sensitive to methyl group supplement levels. (Mood swings.) A VDR mutation can result in behaviors opposite to a COMT mutation. See Dr. Roberts comments at heartfixer.com/AMRI-Nutrigen … bnormality
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[Size=4]MAO-A Gene[/size]
rs6323 - MAOA R297R (Risk Allele: T)
Slower breakdown of Serotonin. Can lead to high/low cycling of neurotransmitter. Mood swings, aggressive behaviors. ACE deletions will also increase anxiety and lower frustration thresholds. Because this is on the X chromosome, males will have only one allele.
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[Size=4]ACAT1 Gene[/size]
rs3741049 - ACAT1-02 (Risk Allele: A)
Plays a major role in ketone body metabolism. Defects cause a 3-ketothiolase deficiency. Yasko believes it will cause an increase in gut bugs (particularly clostridia) as well as elevated fatty acid metabolites.
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[Size=4] MTHFR Gene[/size]
rs1801133 - MTHFR C677T (Risk Allele: A)
rs1801131 - MTHFR A1298C (Risk Allele: G)
rs2066470 - MTHFR P39P (Risk Allele: A)
MTHFR mutations are the centerpiece of the work by Yasko, Rawlins and others, and is the most important to understand. An MTHFR mutation can starve the entire methylation cycle, which has some very large health impacts.
The C677T mutation is associated with a general set of problems: elevated homocysteine, increase in heart disease, increased stroke, increased deep vein thrombosis, peripheral neuropathy, placental vascular problems (stillbirth), preeclampsia, neural tube defects, cleft lip.
The A1298C mutation is assoicated with a second set of problems: depression, anxiety, irritable bowel syndrome, fibromyalgia, chronic fatigue, migraines, dementia, nerve pain, chizophrenia, parkinson’s, tetrahydrobiopterin (BH4) problems. Although not addressed by Yasko, if your Promethease report includes Gs223 or Gs224, you may have additional BH4 impairment.
A person who is compound heterozygous (a single C677T mutation and a single A1298C mutation, each on a different strand) will see symptoms from both defects, but the symptoms tend to be more severe. Rawlins also believes that blood clots are more prevalent. As bad as that is, a person with a single mutation on one gene and a double mutation on the other can be worse. A person who is compound homozygous (double mutation on both genes) is also worse.
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[Size=4]MTR Gene[/size]
rs1805087 - MTR A2576G (Risk Allele: G)
Helps produce methionine from homocysteine. Likely needs a methylated B12. A mutation here causes increase function and increased methyl group depletion. This can be made worse by MTRR mutations.
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[Size=4]MTRR Gene[/size]
rs1801394 - MTRR A66G (Risk Allele: G)
rs10380 - MTRR H595Y (Risk Allele: T)
rs162036 - MTRR L350A (Risk Allele: G)
rs2287780 - MTRR R415T (Risk Allele: T)
rs2303080 - MTRR S257T (Risk Allele: T)
rs1802059 - MTRR A664A (Risk Allele: A)
Necessary to regenerate Methyl-B12 for use by MTR. Mutation can cause shortage, suggesting a need for more B12.
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[Size=4]BHMT Gene[/size]
rs585800 - BHMT-01 (Risk Allele: T)
rs567754 - BHMT-02 (Risk Allele: T)
rs617219 - BHMT-04 (Risk Allele: C)
rs651852 - BHMT-08 (Risk Allele: A, 23andMe: T)
The product the BHMT gene is central to the ‘short cut’ through the methylation cycle, again helping to convert homocysteine to methionine. The activity of this gene product can be affected by stress, by cortisol levels and may play a role in ADD/ADHD by affecting norepinephrine levels.
Yasko believes that believes BHMT-02 and BHMT-04 play a role in the gut environment. Yasko also believes that BHMT-08 is related to the impact that psychological stress has on a patient’s attention levels.
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[Size=4]AHCY Gene[/size]
rs819147 - AHCY-01 (Risk Allele: C)
rs819134 - AHCY-02 (Risk Allele: G)
rs819171 - AHCY-19 (Risk Allele: C)
Catalyzes the hydrolysis of AdoHcy to adenosine and homocysteine. AdoHcy hydrolysis serves not only to sustain the flux of methionine sulfur toward cysteine, but is believed also to play a critical role in the regulation of biologic methylations.
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[Size=4]CBS Gene[/size]
rs234706 - CBS C699T (Risk Allele: A)
rs1801181 - CBS A360A (Risk Allele: T, 23andMe: A)
rs2298758 - CBS I278T (Risk Allele: G)
Limits homocystine into downstream path. People with CBS mutations will need to be careful with sulfur containing supplements. Increased risk for ammonia detoxification issues. Puts a burden on SUOX.
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[Size=4]SUOX Gene[/size]
rs??????? - SUOX S370S (Risk Allele: C)
This gene product helps to detoxify sulfites in the body. Sulfites are a natural byproduct of the methylation cycle and are also ingested from foods. Made worse with CBS and NOS mutations.
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[Size=4]NOS Gene[/size]
rs1799983 - NOS-3 D298E (Risk Allele: T)
Helps in the formation of nitric oxide which has a role in ammonia detoxification, oxidative stress, and chemical production. Mutations here are made worse by MTHFR A1298C mutations and CBS mutations. A mutation here is also made worse by a lack of mutations in SUOX.
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[Size=4]SHMT1 Gene[/size]
rs1979277 - SHMT-1 C1420T (Risk Allele: A)
Helps to shift the emphasis of the methylation cycle toward the building blocks needed for new DNA synthesis and away from the processing of homocysteine to methionine.
