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LOOKING DEEPER INTO MTHFR:
[See: OVERVIEW OF METHYLATION COMMUNITY, and TETRAHYDROBIOPTERIN - (BH4)]
MTHFR - Information, Videos, Homeopathy, Lab Testing and More! — www.homeopathyforwomen.org/MTHFR.htm
DOUBLE ALLELES - A1298C or C677T:
Dr. Carol Savage from Facebook.com:
"You are correct regarding double alleles for 1298C. There isn't much to be found about the MTHFR A1298C x 2 [+/+] homozygote set of mutations.
"1. Some sources brush it off as though it has no impact upon health. That is bogus in my opinion.
2. The MTHFR A1298C [+/+] combination doesn't appear to have too much of an effect on what would be the "forward" direction of the reaction so these people may have what appears to be pretty normal Homocysteine levels. {The C677T mutation is associated with elevated plasma homocysteine levels. CBS: Cystathionine Beta Synthase and CBS: Cystathionine Beta Synthase links below}
3. What is really difficult to find is some really good research on the supposed "BACKWARD" direction of this enzyme. Many enzymes can push a reaction from left to right or from right to left. Other enzymes can only push a reaction in one direction only...forward from left to right.
"This is the issue implied by the double copy of the MTHFR A1298C [+/+] ...that the enzyme reaction cannot go backward from right to left. BUT...I cannot find any proof of this claim anywhere in any well done scientific research project. So far I can only find "Claims" that this is what the problem is with the double copy of MTHFR A1298C [+/+].
"SEVERE AFFECT — Having 2 copies of the MTHFR A1298C gene mutation [+/+] reduces a person's ability to recycle BH4 way down to 30%.
"MILD AFFECT — If you only have 1 copy (single allelle) of the MTHFR A1298C gene mutation then your MTHFR enzyme's ability to recycle BH2 to BH4 comes down down to about 70%. [That is not so bad.]" {end quote} [See: TETRAHYDROBIOPTERIN - (BH4) below]
Methyl Cycle Nutrigenomics - multiple Methyl cycle pathways diagrams — www.heartfixer.com/AMRI-Outcomes-Non-CV-Autism-Methyl%20Cycle.htm#MTRR:%C2%A0%20Methionine%20Synthase%20Reductase
Links to: Detailed information, Technical data, technical lecture and lecture notes — community.agapenutrition.com/mthfr/
MTHFR.net is the leading resource for unbiased, researched information strictly about the MTHFR mutation. — mthfr.net/
Nutrigenomics — www.heartfixer.com/AMRI-Nutrigenomics.htm
MTHFR Audio Lectures by Dr. Neil Rawlins at:— www.renewashoe.com/medical/- [See: www.methyl-life.com/a-doctor-explains.html]
Methylation and MTHFR defects presentation — mthfr.net/methylation-and-mthfr-defects-presentation/2012/04/25/
[See: TREATMENT FOR MTHFR]
Phosphatidylinositol polyphosphates regulate diverse functions, and defects in their metabolism likely contribute to many human diseases. — www.scribd.com/doc/124371794/Loss-of-Vac14-a-regulator-of-the-signaling-lipid-phosphatidylinositol-3-5-bisphosphate-results-in-neurodegeneration-in-mice
The effects of phosphatidylserine on endocrine response — www.scribd.com/doc/124373996/The-effects-of-phosphatidylserine-on-endocrine-response-to-moderate-intensity-exercise
Modulation of synaptic function by VAC14 — www.scribd.com/doc/124372647/Modulation-of-synaptic-function-by-VAC14-a-protein-that-regulates-the-phosphoinositides-PI-3-5-P2-and-PI-5-P
Lithium Induced Perturbations of Vitamin-B12, Folic Acid and DNA Metabolism — www.scribd.com/doc/125176090/Lithium-Induced-Perturbations-of-Vitamin-B12-Folic-Acid-and-DNA-Metabolism
Lithium connection, Dr. Amy Yasko — www.dramyyasko.com/resources/webisodes/lithium-connection-webisode/
Dr. Amy Myers: Functional Medicine And MTHFR at BlogTalkRadio: — www.blogtalkradio.com/mthfrsupport/2013/02/14/amy-myers-md-functional-medicine-and-mthfr?fb_action_ids=10151318492612776&fb_action_types=og.likes&fb_ref=.URqY2Jg9hR4.like&fb_source=aggregation&fb_aggregation_id=288381481237582
CBS: Cystathionine Beta Synthase — www.heartfixer.com/AMRI-Nutrigenomics.htm#CBS:%C2%A0%20Cystathionine%20Beta%20Synthase
"CBS initiates the trans-sulfuration pathway, converting homocysteine in to cystathionine and its downstream metabolites. This is the most important Methyl Cycle defect and is present in 90% of the patients who we have tested. The CBS defect is an up regulation. CBS is operating at up to ten times its normal rate. Homocysteine and all of the upstream methyl cycle precursors will be “pulled down the CBS drain” to produce toxic levels of cystathionine metabolites. The C699T and (to a somewhat lesser extent) A360A defects are associated with CBS up regulation. Homozygotes (+/+) will be more severely affected than will be individuals heterozygous (+/-) for a CBS abnormality. We treat CBS ( +) individuals with dietary animal protein and sulfate restriction and supplements designed to neutralize ammonia and speed up clearance of sulfite/sulfate."
MTHFR C677T Mutation: Basic Protocol —
Methylation pathway panel: vitamin diagnostics — www.seekinghealth.com/methylation-pathway-panel-vitamin-diagnostics.html
Methylation pathways panel explained — www.seekinghealth.com/natural-health-podcasts/methylation-pathways-panel-explained.html
Neurotransmitters and methylation, Dr. Jess Armine — www.blogtalkradio.com/mthfrsupport/2013/03/14/neurotransmitters-and-methylation-with-dr-jess-armine
Methylation, Vitamin D, Magnesium and Hormones — www.youtube.com/watch?v=cZSJAK6ggcg {testing available — http://functionaldiagnostictesting.com/}
Dr. Jess Armine and nutritionist Shawn Bean discuss Methylation and Gut Health: www.blogtalkradio.com/mthfrsupport/2013/04/04/putting-it-all-together
Methylation and mutations & dopamine — www.dramyyasko.com/resources/webisodes/methylation-and-mutations-dopamine/
MTHFR mutation: A missing piece in the chronic disease puzzle — holisticprimarycare.net/topics/topics-a-g/functional-medicine/1353-mthfr-mutation-a-missing-piece-in-the-chronic-disease-puzzle
S-Adenosyl-l-methionine (SAMe): its role in the treatment of liver disorders — ajcn.nutrition.org/content/76/5/1183S.full
MTHFR and thyroid disorders — mthfr.net/mthfr-and-thyroid-disorders/2013/07/18/
MTHFR as a novel biomarker for infertility — www.epibeat.com/article-summaries/hope-for-the-future-mthfr-as-a-novel-biomarker-for-infertility/436/
MTHFR (Methylenetetrahydrofolate reductase) — nwhealthcare.net/index.php?id=64 or www.renewashoe.com/medical/
"The worst combination is 677T/1298C in which you are heterozygous to both anomalies. Many chronic illnesses are linked to this anomaly. 98% of autistic children have an MTHFR anomaly. ... The treatment of MTHFR related problems is primarily nutritional. There are a number prescription medications, which are classified as medical foods, that are designed to help with this disorder. The two that I use the most are Metanx™ and Deplin™." [with links for genetic testing and intrepretation]
Chronic Fatigue Syndrome (CFS) & Myalgic-encphalomyelitis (ME) (video presentation by Dr. Richard Van Konynenburg) — iaomt.media.fnf.nu/2/skovde_2011_me_kroniskt_trotthetssyndrom/$%7Bweburl%7D [See: Documents by Rich Van Konynenburg: Parts 1-7]
The Link Between MTHFR Gene Mutations and Disease Including Thyroid Health — thyroid.about.com/od/MTHFR-Gene-Mutations-and-Polymorphisms/fl/The-Link-Between-MTHFR-Gene-Mutations-and-Disease-Including-Thyroid-Health_2.htm [See: THYROID HEALTH]
[See: SUPPORT GROUPS]
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