Disclaimer: Please consult with your physician or healthcare provider for health care and treatment. The educational information in this website is not a substitute for professional medical or healthcare advice.
MTHFR stands for Methylenetetrahydrofolate Reductase. It is an enzyme deficiency that can cause many problems. There are 50+ gene variants. The most common ones that doctors will look for is C677T, A1298C, P39P and R594Q (single allele, double allele, or one of each). MTHFR is interconnected with a host of metabolic controls and hormone regulation pathways in the body. Studies have predicted that over 40% of the world's population has this known genetic defect called MTHFR. The end result of correctly treating MTHFR is the proper return of methylation pathways in the body. When methylation is working, glutathione is being created which will then remove toxins and metals from the body.
Look for *** marking specially important information, documents, or webpages!
OVERVIEW OF METHYLATION COMMUNITY:
*** MTHFR Gene Mutations: A Beginner's Guide by Heather ? (aka Mommypotamus) this site contains helpful links and reader commentary introducing integrative information and sources for more research. mommypotamus.com/mthfr-mutation/
*** This is the best overview of the Technical (Simplified) Methylation Community in the human body. It has a good Functional Explanation with a list of resultant diseases/disorders related to impaired methylation. — www.autismnti.com/images/Website-_Yasko_Education.pdf
EXCELLENT explanatory graph prepared by Stephen Smith, MD on MTHFR Related Health Problems showing intertwined systems and problems — www.mindmeister.com/12694596/mthfr-related-health-problems. It displays the following connections:
- Detoxification
- Toxin Control [Gluten and others foods]
- Diet and Nutrition
- Treatment
Methylation provides global biochemical DNA regulation. "DNA methylation is a crucial modification of the genome that is involved in regulating cellular processes. These include embryonic development, transcription of DNA, chromatin structure, X chromosome inactivation, genomic imprinting, and chromosomal stability. Consistent with these important roles, a growing number of human diseases have been found to involve aberrant DNA methylation. The study of these diseases has provided new and fundamental insights into the roles that DNA methylation and other epigenetic modifications have in development and normal cellular homeostasis. Methylation also regulates proteins, histones and stem cells. This is not simply methyl group regulation at a DNA level. It is global regulation." Nancy Mullan, MD [See: IMPORTANT PDF & TEXT FILES and The_Methyl_Group_What_It_Can_Do_for_You.pdf below]
Three Different Symptom Areas affected by MTHFR Impairment — www.methyl-life.com/symptoms-of-mthfr.html
Methylation Map with good explantions — www.heartfixer.com/AMRI-Nutrigenomics.htm
Methylation and other interconnected Sub-Methylation Maps with good explantions of disease, problems, lab tests, treatment rationale, diet and supplementation, etc. — www.heartfixer.com/AMRI-Nutrigenomics.htm#CBS:%C2%A0%20Cystathionine%20Beta%20Synthase
"If we do not address the Methyl Cycle abnormalities that underlie unexplained or chronic illness - well then the illnesses will remain chronic and unexplained, because it is the Methyl Cycle Abnormalities that predisposed you to ill health." {Emphasis mine} [See: Wrong "Low-fat" diet destroys the body]
*** Methylation Map by Dr. Amy A. Yasko Ph.D., ND, NHD, AMD, HHP, FAAIM — www.scribd.com/doc/91389908/Yasko-Methylation-Cycle
*** Folate Ingestion Map by Seeking Health™ href="https://attachment.fbsbx.com/file_download.php?id=299198693563157
[See: FOLATE]
Symptom List for A1298C by Dr. Benjamin Lynch, ND — mthfr.net/mthfr-a1298c-mutation-some-information-on-a1298c-mthfr-mutations/2011/11/30/)
Treating Methylation [See: TREATMENT FOR MTHFR]
MTHFR affects LYME patients — www.mdjunction.com/forums/lyme-disease-support-forums/general-support/10407444-chronic-pain-occult-lyme-and-mthfr (See: LYME DISEASE - BORRELIA, etc.]
Allele types and Attributes:
The normal healthy allele combination is labeled C677C -/- or A12981A -/- with 0% loss of function.
C677C is the normal form. The mutated form is labelled C677T [At least 15% of the general population has a genetic enzyme defect (C-to-T mutation of nucleotide 677 of the MTHFrgene) that causes elevated homocysteine.]. One allele is desinated +/- and the double allele is +/+. The C677T +/- yeilds 40% loss of function while the C677T +/+ yeilds 70% loss of function.
A12981A is the normal form. The mutated form is labelled A1298C. One allele is desinated +/- and the double allele is +/+. The A1298C +/- yields 20% loss of function while the A1298C +/+ yeilds 40% loss of function.
In the United States, allele frequency of C677T is 0.39 and A1298C is 0.17; homozygosity for C677T is 1% to 15%.
The rare combination of alleles C677T +/- and A1298C +/- yeilds 50% loss of function and the C677T +/+ and A1298C +/- yeilds >70% loss of function. [There are 50 known cases world-wide of C677T +/+ and A1298C +/+ with 80-100% loss of function.]
This article "MTHFR C677T and A1298C: Explained In Plain English" attempts to clarify what an MTHFR C677T and A1298C mutation is, in a way you can understand. Another overview "MTHFR A1298C Mutation: Some Information on A1298C MTHFR Mutations" is given by Dr. Ben Lynch. A third is "MTHFR gene variant" from the Genetic and Rare Diseases Information Center (GARD) at the U.S. NIH.
Biological and clinical implications of the MTHFR C677T polymorphism — www.cell.com/trends/pharmacological-sciences/abstract/S0165-6147%2800%2901675-8 or www.cell.com/trends/pharmacological-sciences/abstract/S0165-6147(00)01675-8
IMPORTANT PDF & TEXT Files:
Start here first, and then read down through the list of files!
"Make the core of your program balancing pathways that produce methyl groups. Then service the needs of your gastrointestinal tract. Deal intelligently with whatever else may come up, like mold, hormonal problems, dental issues, heavy metal toxicity, electro magnetic frequency intolerance, and problems with your water supply. In the end, you get to well-being. It's a marathon, not a sprint, as Dr. Amy (Yasko Ph.D., ND, NHD, AMD, HHP, FAAIM) says so often." Nancy Mullan, MD
The Methyl Group: What It Can Do for You, Nancy Mullan, MD — The_Methyl_Group_What_It_Can_Do_for_You.pdf
MTHFR Related Health Problems — MTHFR_Related_Health_Problems.pdf
A1298C polymorphism — 42-A1-MTHFR_A1298C.pdf
Chronic Illness Tips Ebook — Chronic-Illness-Tips-Ebook.pdf
Magnesium Deficiency Report — Magnesium_Deficiency_Report_Jigsaw_Health.pdf
Nitric Oxide in Pathophysiology and Treatment of Pulmonary Hypertension (& connection to BH4) — Nitric Oxide connection to BH4.pdf
Simplified Roadmap to Health — www.scribd.com/doc/132017201/Dr-Amy-s-Simplified-Road-Map-to-Health
MTHFR protocol — www.rawlins.org/mthfr/MTHFR%20protocol.doc or MTHFR protocol.doc - from 2010
Lists of more resources: — www.gobookee.org/search.php?q=Yasko and www.gobookee.org/genetic-bypass-amy-yasko/
Psychoneuroimmunology Meets Neuropsychopharmacology: Translational Implications of the Impact of Inflammation on Behavior - FIGURES AND TABLES — www.nature.com/npp/journal/v37/n1/fig_tab/npp2011205ft.html
MTHFr, Methylation and Metals, Dr. Amy A. Yasko Ph.D., ND, NHD, AMD, HHP, FAAIM — dramyyasko.com/wp-content/uploads/2010/06/texas-3-final.pdf
All information is intended for your general knowledge only and is not a substitute for medical advice or treatment for specific medical conditions. You should seek prompt medical care for any specific health issues and consult your physician or health practitioner before starting a new treatment program. Please see our full DISCLAIMER.