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  • Roy Jamron
    Roy Jamron

    A Case of Refractory Celiac Disease Cured By Fecal Microbiota Transfer

      Journal of Gluten Sensitivity Autumn 2017 Issue

    Caption: Image: CC--Dwight Sipler

    Celiac.com 08/31/2017 - A possible mechanism behind the cause of refractory celiac disease and why fecal transplantation (fecal microbiota transfer) may provide a cure was presented in "Synthetic Stool May Advance Fecal Transplant Therapy for Celiac Disease" 02/13/2013.[1]  In September 2016, the article "Serendipity in Refractory Celiac Disease: Full Recovery of Duodenal Villi and Clinical Symptoms after Fecal Microbiota Transfer" was published in the Journal of Gastrointestinal and Liver Disease[2] describing the first known case of refractory celiac disease cured by a fecal transplant.  The patient in that case was being treated for a recurrent Clostridium difficile infection.  This very important milestone article somehow missed the light of the news media at that time.

    The 68-year old woman patient was a 10-year diagnosed victim of refractory celiac disease on a gluten-free diet.  On admission for treatment of severe diarrhea, the patient exhibited Marsh IIIA villous atrophy.  The patient was already receiving on-going treatment for refractory celiac disease with drugs.  Additional drugs and antibiotics were given to treat the diarrhea.  Eventually, the patient tested positive for C. difficile.  Antibiotics were ineffective to treat the recurrent C. difficile infection.  A fecal microbiota transfer was then performed.  The C. difficile infection and diarrhea resolved, and, 6 months after the fecal transplant, villous atrophy resolved and went to Marsh 0.  All symptoms of refractory celiac disease were eliminated.  The patient remains symptom free on a continuing gluten-free diet.

    The case clearly demonstrates the need to fully investigate the use of fecal microbiota transfers to treat celiac disease.  As suggested in my earlier reference[1], a standardized synthetic stool should be developed to enable full scale clinical trials.  Also a full scale research effort into completely healing and restoring the intestinal mucosa with the novel protein R-spondin1 needs to be funded and restarted.

    Sources:



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  • About Me

    Roy S. Jamron holds a B.S. in Physics from the University of Michigan and an M.S. in Engineering Applied Science from the University of California at Davis, and independently investigates the latest research on celiac disease and related disorders.

  • Related Articles

    Roy Jamron
    Celiac.com 02/02/2013 - The possible link between the makeup of gut bacteria and celiac has been a subject of past discussion in "More Evidence Links Gut Bacteria to Celiac Disease"[1] and other articles.  Certain gut bacteria appear to enhance the immune response to gluten which may contribute to the onset of celiac disease.  Vitamin D may reduce or eliminate this enhanced gluten response, and, therefore, vitamin D deficiency may be a significant factor contributing to the onset and development of celiac disease.[2]  "Fecal transplantation", probiotics, and vitamin D have been advocated as possible therapy, treatment, and/or preventative measures against celiac disease.  While vitamin D and probiotics may have potential as preventative measures against the onset of celiac disease early in life, the option of a fecal transplant provides the actual possibility of restoring tolerance to gluten or curing celiac disease later in life following long-term intestinal mucosal recovery on a gluten-free diet.  In particular, fecal transplantation might make it possible to treat refractory celiac disease which does not respond to a gluten-free diet.
    Fecal transplant therapy for gastrointestinal disorders was pioneered by the world reknown Australian gastroenterologist, Prof. Thomas J. Borody, M.D., and is now used most successfully for treatment of persistant C. difficile infections of the gastrointestinal tract.  Fecal transplantation involves the actual transfer of screened and filtered fecal material from a healthy donor into the gut of a patient, previously treated with antibiotics to clear gut bacteria, replacing the patient's own gut bacteria with a healthy mix of donor gut bacteria.  The fecal material may be administered either orally or anally, via tubes.  Selecting and screening a healthy donor, usually a spouse or close relative, as well as the "disgust" factor have limited use of this therapy in past years, but its high anecdotal success rate for treating stubborn C. difficile cases is finally bringing fecal transplantation into the mainsteam of routine gastrointestinal practice.  The first clinical trial of fecal transplant therapy involving 43 C. difficile patients compared to conventional vancomycin antibiotic therapy has just been published finding fecal transplantation 3 times more effective than vancomycin in resolving C. difficile infections.[3,4]
    To date, there does not appear any record of an attempt or clinical trial to treat celiac disease via fecal transplant therapy.  A big problem preventing any significant clinical trial of fecal transplantation for celiac disease is there is no way to "standardize" the healthy donor fecal material.  The mix of bacteria from every donor is unique.  Each donor must also undergo careful screening for harmful fecal pathogens.  But, now, recent developments may make such a clinical trial feasible.  A synthetic stool substitute was successfully used to clear C. difficile infections in 2 patients as part of a "proof-of-principle" study which may lead the way to eliminate the need for individual healthy feces donors and the need for screening tests.  The synthetic stool consisted of a mix of 33 bacteria species isolated from the stool of one healthy donor and cultured under simulated intestinal conditions.[5,6]  Such a standardized synthetic stool potentially administered orally in capsule form could make large scale fecal transplantation clinical trials possible.  An "off-the-shelf" bacteria mixture specifically developed for the treatment of celiac disease might become a reality.
    In the case of refractory celiac disease, a gluten-free diet does not stop the continued destruction of the intestinal mucosa.  Research has not yet found the reason for refractory celiac disease, but "molecular mimicry" may be one possible cause.  Celiac disease is an immune response to particular sequences of amino acids in gluten peptides called epitopes.  In the absence of gluten, if there exist peptides from other sources with amino acid sequences matching or "mimicking" these gluten epitopes, the destructive immune response may continue to damage the mucosa.  This is molecular mimicry in action.  It is possible that some gut bacteria may express some of these epitopes on their surface, or, more likely, secrete peptides that contain these epitopes.  These bacterial secretions might then coat the lining of the intestine sustaining the immune response.  Secreted epitopes are the more likely cause of refractory celiac disease than bacteria surface epitopes because the immune system would eventually destroy the bacteria if bacteria surface epitopes were involved.  But if the cause were the bacterial secretion epitopes, the bacteria itself would not be attacked and would continue to produce the secretions indefinitely perpetuating the mucosal damage.  Fecal transplant therapy might cure refractory celiac disease by eliminating the gut bacteria producing the epitope mimicking secretions.  How likely are such gut bacteria molecular mimics to exist?  One study has investigated this for the case of multiple sclerosis and concluded there is a strong likelihood that "normally occurring gut bacterium" could produce epitopes that might cause MS through molecular mimicry.[7]  One case of molcular mimicry between human peptides and wheat peptides has been found.[8]
    In the case of normal celiac disease (non-refractory celiac disease) treatable by a gluten-free diet, after some length of time on a gluten-free diet when the antibodies to gluten epitopes have cleared and when the intestinal mucosa has sufficiently healed, it may be possible to reprogram the immune system to tolerate gluten through fecal transplantation, along with vitamin D supplementation, providing a new healthy gut bacteria mix.  One problem, however, is that in many cases the damage to the intestinal mucosa from celiac disease does not entirely heal.[9,10]  This means that a long-term or permanent state of increased intestinal permeablity or "leaky gut" exists after beginning a gluten-free diet.  "Leaky-gut" is by no means a benign condition.  It puts a strain on the liver's detoxification abilities having to continually deal with toxins readily passing through the "leaky" intestinal mucosa.  The toxins come from gut bacteria as well as from drugs and environmental chemicals including household products and cosmetics.  Inhaled environmental toxins can be ingested when mucus expelled from the lungs is swallowed.  The overload on the liver and its inability to keep up with detoxification can lead to long-term debilitating medical conditions such as wide-spread chronic pain, muscle pain and weakness, neuropathies, fatigue, dry mouth, frequent urination, swelling, allergies, and even to other autoimmune disorders[11] due to fat soluble toxins accumulating in adipose tissue where they remain causing inflammation and raising havoc indefinitely.  The result is an unfavorable pro-inflammatory immune system environment which could impede any chance of restoring gluten tolerance.
    A promising treatment that could entirely heal the intestinal mucosa and "leaky gut" is a treatment based on a novel protein called R-spondin1.  Prior to January 2009 a small San Francisco pharmaceutical company, Nuvelo, was developing an R-spondin1 therapy drug with the designation, NU206.  NU206 had shown some great promise and success in lab studies.  Dramatic mucosal healing was demonstrated in an experimental colitis model with mice.[12]  Nuvelo's first targets were to use NU206 to heal and reduce intestinal mucosal damage from cancer chemotherapy and radiation therapy and to treat short-bowel syndrome.  In December 2008 Nuvelo had actually announced results from Phase 1 clinical safety trials on 32 healthy male volunteers demonstrating administration of NU206 caused no adverse effects.[13]  Unfortunately, Nuvelo, which also has other drugs in development, ran short of funding and, in January 2009, merged with a Colorado company, ARCA biopharma.[14]  ARCA biopharma is dedicated to developing genetically-targeted therapies for cardiovascular diseases. [http://www.nuvelo.com/]  It appears that all NU206 research and development and clinical trials were suspended with the merger.  NU206, an extremely promising drug that might enable full intestinal mucosal healing and recovery in celiac disease now sits idly on a shelf with no indication clinical trials will ever resume.  While there has been some very limited research on R-spondin1 in other medical applications by other scientists, there has been no new R-spondin1 research on intestinal healing since the merger.  Any celiac disease interest group with access to funding for celiac disease research should consider contacting ARCA biopharma to see what efforts might be implemented to restart this very important R-spondin1 research.
    Sources:
    1. More Evidence Links Gut Bacteria to Celiac Disease
    Roy S. Jamron
    Celiac.com 2008 Nov 6.
    https://www.celiac.com/articles/21685/
    2. Do Vitamin D Deficiency, Gut Bacteria, and Gluten Combine in Infancy to Cause Celiac Disease?
    Roy S. Jamron
    Celiac.com 2008 Jun 16.
    https://www.celiac.com/articles/21605/
    3. Fecal Transfer Proves Potent Clostridium difficile Treatment
    Jenni Laidman
    Medscape Medical News 2013 Jan 16.
    http://www.medscape.com/viewarticle/777772
    4. Duodenal Infusion of Donor Feces for Recurrent Clostridium difficile
    Els van Nood, Anne Vrieze, Max Nieuwdorp, Susana Fuentes, Erwin G. Zoetendal, Willem M. de Vos, Caroline E. Visser, Ed J. Kuijper, Joep F.W.M. Bartelsman, Jan G.P. Tijssen, Peter Speelman, Marcel G.W. Dijkgraaf, Josbert J. Keller
    NEJM 2013 Jan 16; Published Online
    http://www.nejm.org/doi/full/10.1056/NEJMoa1205037
    5. C difficile: Synthetic Stool Substitute Clears Infection
    Jenni Laidman
    Medscape Medical News 2013 Jan 10.
    http://www.medscape.com/viewarticle/777515
    6. Stool substitute transplant therapy for the eradication of Clostridium difficile infection: "RePOOPulating" the gut
    Elaine O Petrof, Gregory B Gloor, Stephen J Vanner, Scott J Weese, David Carter, Michelle C Daigneault, Eric M Brown, Kathleen Schroeter and Emma Allen-Vercoe
    Microbiome 2013 Jan 9;1:3.
    http://www.microbiomejournal.com/content/1/1/3
    7. Molecular mimicry revisited: gut bacteria and multiple sclerosis.
    Westall FC.
    J Clin Microbiol. 2006 Jun;44(6):2099-104.
    http://jcm.asm.org/content/44/6/2099.long
    8. IgA cross-reactivity between a nuclear autoantigen and wheat proteins suggests molecular mimicry as a possible pathomechanism in celiac disease.
    Natter S, Granditsch G, Reichel GL, Baghestanian M, Valent P, Elfman L, Gronlund H, Kraft D, Valenta R.
    Eur J Immunol. 2001 Mar;31(3):918-28.
    http://www.ncbi.nlm.nih.gov/pubmed/11241297
    9. Mucosal healing and mortality in coeliac disease.
    Lebwohl B, Granath F, Ekbom A, Montgomery SM, Murray JA, Rubio-Tapia A, Green PH, Ludvigsson JF.
    Aliment Pharmacol Ther. 2013 Feb;37(3):332-9.
    http://www.ncbi.nlm.nih.gov/pubmed/23190299
    10. Complete recovery of intestinal mucosa occurs very rarely in adult coeliac patients despite adherence to gluten-free diet.
    Lanzini A, Lanzarotto F, Villanacci V, Mora A, Bertolazzi S, Turini D, Carella G, Malagoli A, Ferrante G, Cesana BM, Ricci C.
    Aliment Pharmacol Ther. 2009 Jun 15;29(12):1299-308.
    http://www.ncbi.nlm.nih.gov/pubmed/19302264
    11. Chemical-induced allergy and autoimmunity
    Marty Bernardus Franciscus Wulferink
    [s.l.] : [s.n.], 2001 - Tekst. - Proefschrift Universiteit Utrecht
    http://igitur-archive.library.uu.nl/dissertations/1975053/inhoud.htm
    12. R-spondin1, a novel intestinotrophic mitogen, ameliorates experimental colitis in mice.
    Zhao J, de Vera J, Narushima S, Beck EX, Palencia S, Shinkawa P, Kim KA, Liu Y, Levy MD, Berg DJ, Abo A, Funk WD.
    Gastroenterology. 2007 Apr;132(4):1331-43.
    http://www.ncbi.nlm.nih.gov/pubmed/17408649
    13. Nuvelo Announces Positive Results from Phase 1 Clinical Trial of NU206 in Healthy Volunteers
    2008 Dec 10.
    http://www.evaluatepharma.com/Universal/View.aspx?type=Story&id=172716
    14. Biotechs Arca, Nuvelo complete reverse merger
    2009 Jan 28.
    http://www.bizjournals.com/sanfrancisco/stories/2009/01/26/daily64.html

    Jefferson Adams
    Celiac.com 07/11/2016 - Collagenous sprue is a rare form of small bowel enteropathy characterized by a thickened basement membrane and is considered to be directly related to celiac disease.
    Doctors have numerous treatment strategies for celiac sprue, but there is currently no effective standardized therapy. One medical team recently described four cases of celiac sprue and proposes thioguanine (6-TG) treatment, based on their results.
    The research team included Tom van Gils, Tine van de Donk, Gerd Bouma, Foke van Delft, E Andra Neefjes-Borst, and Chris JJ Mulder. They are variously affiliated with the Department of Gastroenterology and Hepatology, VU University Medical Center, Amsterdam, The Netherlands, Department of Pathology, VU University Medical Center, Amsterdam, The Netherlands.
    The team reviewed 4 cases of celiac sprue. They got their data from the prospective database of patients referred to their celiac centre. The team had an expert pathologist evaluate the small bowel biopsies.
    None of the patients had ever shown celiac-specific antibodies, and all were negative for HLA-DQ2 and HLA-DQ8 phenotype. Three patients were treated with a combination of 6-TG and budesonide, and 1 patient received 6-TG only. All patients improved remarkably.
    They found normalized thickening of the basement membrane in 2 patients, and complete histological improvement, including full recovery of villi, in 1 patient. In the third patient, the thickened basement membrane was only very focally recognized. The thickened membrane remained in the last patient, likely due to the short follow-up time.
    Celiac sprue should be separated from celiac disease. Based on the lack of typical HLA phenotyping and the absence of celiac-specific antibodies, there seems to be no relation with celiac disease in these four patients.
    A promising treatment option might be 6-TG with or without budesonide. Larger study groups are needed to develop an effective standardized treatment for celiac sprue.
    This is exciting for folks with celiac sprue, as they previously had no good treatment options at all.
    Source:
    BMJ Open Gastro 2016; 3:e000099. doi:10.1136/bmjgast-2016-000099

    Jefferson Adams
    Celiac.com 01/30/2017 - A team of researchers recently set out to analyze potential changes in occurrence of complicated coeliac disease over the last 25 years.
    The research team included W. Eigner, K. Bashir, C. Primas, L. Kazemi-Shirazi, F. Wrba, M. Trauner, and H. Vogelsang. They are variously affiliated with the Division of Gastroenterology and Hepatology, Department of Internal Medicine III, Medical University Hospital of Vienna, Vienna, Austria, and with the Department of Pathology at the Medical University of Vienna in Vienna, Austria.
    The team included and evaluated a total of 1,138 patients based on time of first presentation at the Medical University of Vienna, Austria.
    They assessed occurrences of refractory celiac disease and associated malignancies in 5-year intervals from January 1990 until December 2014, and then compared results over time. Twenty-nine patients, or 2.6%, were diagnosed with refractory celiac disease. Of these, 65.6% were females averaging 62.8 years of age at diagnosis.
    The proportion of those patients was 2.6%, 3.1%, 3.3%, 2.7% and 0.5% for the 5 year intervals from 1990 through 2014. The number of refractory cases has been generally decreasing since 2000 (P = 0.024). During that time, a total of seven patients presented with lymphoma, totaling 0.6%, 0.4%, 1.1%, 0.8% and 0% of patients each year, respectively.
    Similarly the number of patients with adenocarcinoma, four patients total, decreased to 0% until 2014. Nearly 50% of patients suffering from refractory disease died during the study period. Meanwhile, 71.4% all patients diagnosed with lymphoma died, with a 5-year survival rate of 28.6%.
    Over the past 15 years, rates of complicated celiac disease have been decreasing. This may be due to increased celiac disease awareness, along with optimized diagnosis and treatment with avoidance of long-term immunological disease activity.
    Known risk factors for refractory celiac disease and related cancer include untreated symptomatic disease and delayed diagnosis.
    Source:
    Aliment Pharmacol Ther, 45: 364–372. doi:10.1111/apt.13867

    Jefferson Adams
    Celiac.com 05/24/2017 - Refractory celiac disease (RCD) is a rare manifestation of celiac disease that is difficult to treat, and often results in death from enteropathy-associated T-cell lymphoma.
    Doctors looking to treat RCD have found very limited success with a number of immunosuppressive medications (IMs), including azathioprine, systemic corticosteroids, or regular budesonide. A team of researchers at the Mayo Clinic recently set out to assess open-capsule budesonide (OB) treatment on RCD patients, including those who saw no improvement with previous IM treatments. The research team included Saurabh S Mukewar, Ayush Sharma, Alberto Rubio-Tapia, Tsung-Teh Wu, Bana Jabri and Joseph A Murray.
    The team first looked for RCD patients treated with OB at Mayo Clinic, Rochester, Minnesota from 2003 to 2015. They then reviewed demographic, serologic, and clinical variables in these patients. The team found a total of 57 patients who received OB as treatment for suspected RCD.
    Based on clonal T-cell receptor gamma gene rearrangement or aberrant phenotype of intraepithelial lymphocytes (IELs), the team classified 13 patients (23%) as having RCD-2 and 43 (75%) as RCD-1.
    The team was unable to determine TCR gene rearrangement status for one patient (2%). Most patients were women (69%), with an average age of 60.5 (+/- 3.5) years, while average body mass index was 28.4 kg/m2.
    Nearly 75% of patients suffered from diarrhea, with an average of 6 bowel movements per day (range, 4–25). Nearly half of these patients failed to improve with IM treatment. Twenty-four patients (42%) were anemic, while 12 patients (21%) had hypoalbuminemia. Biopsies showed Marsh 3 lesions in all patients, broken down as follows: 19% were Marsh 3a, 46% were Marsh 3b, and 35% were Marsh 3c.
    After OB therapy, 92% showed clinical improvement, while 89% showed histologic improvement. Subsequent biopsies showed that 7 out of 13 patients with RCD-2 (53%) displayed an absence of the previously observed clonal TCR gamma gene rearrangement/aberrant IEL phenotype. During the follow-up period, two patients died of enteropathy-associated T-cell lymphoma.
    Most RCD patients show clinical and histopathologic improvement with OB treatment, including those who previously failed to respond to other IMs.
    These results show that treatment with open-capsule budesonide is a promising option for patients looking to manage RCD.
    Source:
    The American Journal of Gastroenterology, (21 March 2017). doi:10.1038/ajg.2017.71

    Betty Wedman-St Louis, PhD, RD
    Celiac.com 01/31/2018 - Methylation is a biochemical reaction in the human body that requires a variety of nutrients to perform indispensable roles in neurological health, detoxification, amino acid metabolism, gene regulation and vitamin assimilation. Every person with celiac disease needs to have their methylation variants tested by their physician so they can achieve good health. How well your body can "methylate" is important to your overall health.
    Methylation pathways in the body are important in cardiovascular health, neuroprotection from dementia and Alzheimer's disease, cognition skills in the young and old, along with emotional wellness and cellular function. A simple blood test- MTHFR- which is available at all major laboratories can determine if common genetic variants require additional supplementation of B vitamins.
    The MTHFR (Methylene Tetrahydrofolate Reductase) converts folate (vitamin B9) and riboflavin (vitamin B2) into an active part of the energy production cycle. In addition, it can indicate if higher levels of Vitamin B12 are needed. Since it is a genetic factor, some clinics do not test it but every celiac needs to know what variants they have in order to optimize their nutritional needs. (Author's note: I wish I had done this testing when I first learned about it 20 years ago. It has made all the difference in the world in my health these past 8 years!)
    The role of methylation is to help enzymes in our body work efficiently. Enzymes are like switches for chemical reactions in cells and tissues. Inadequate methylation nutrients- folate (NOT folic acid), methylcobalamin - the active form of B12 (NOT cyanocobalamin- the cheap cyanide form), and vitamin B6 as pyridoxal-5-phosphate can improve anemia, sleep, energy production and detoxification of chemicals from gasoline fumes to ammonia odors and personal care fragrances.
    Research over the past twenty years has provided a wealth of knowledge about methylation. It is the responsibility of each person to know their MTHFR variants which were inherited from mom and dad. Here is a brief list of the medical conditions affected by variants in MTHFR.
    Neurological Disorders: Parkinson's, Alzheimer's, Dementia, Multiple Sclerosis, Autism Cardiovascular Disorders: Atherosclerosis, Pulmonary Embolisms, General Clotting Disorders Mental Dysfunction: Depression, Anxiety, Insomnia, ADD/ADHD, Bipolar, Addictive Behaviors, Schizophrenia Conception: Infertility, Recurrent Miscarriages Immune Function: Allergies, Chronic Viral Infection Diabetes: Retinopathy, Neuropathy, Nephropathy Increased Sensitivity: Chemicals, Drugs, Supplements Birth Defects: Congenital Heart Defects, Cleft Palette, Spinal Bifida, Down's Syndrome Cancer Thyroid Dysfunction Chronis Conditions: Pain, Fibromyalgia, Chronic Fatigue Syndrome These MTHFR variants are NOT uncommon but unfortunately few in the medical arena are educated to address dietary concerns related to them. A book MTHFR- Methylation Diet is available on my website www.betty-wedman-stlouis.com for those who need assistance understanding their profile and designing dietary plans. The Methylation Diet is a high protein diet with lots of folate rich vegetables. Thos individuals with MTHFR variants should avoid folic acid as a dietary supplement and foods enriched with it like cereals, breads, flour, etc.

    Sandi Star, HHP, CNC, CCMH
    Celiac.com 02/08/2018 - Have you ever considered being tested for a genetic defect called MTHFR? If you have a family history of heart disease or stroke, migraines, trouble getting pregnant or have a child with Autism you might want to consider reading on to learn more. These are just a few of the list of conditions linked to MTHFR mutation. Surprisingly, 60% of our population has this mutation and most do not even know what MTHFR is.
    I recently came up positive myself for MTHFR A1298C. We will talk more about the two common markers in a bit. This changes everything when it comes to choices and is important to have the knowledge when choosing foods and supplementation. It's also important to monitor your folate levels. More to come.
    Interestingly, Untreated celiac disease may be associated with hyperhomocysteinemia caused by a combination of vitamin deficiencies and variants in the MTHFR gene. If you are not healing with a gluten free diet this might be a test to consider. [1]
    So, what is MTHFR?
    The MTHFR gene (methylenetetrahydrofolate reductase) is an enzyme that plays an important role in processing amino acids, the building blocks of proteins. Now you know why it's an acronym! Methylenetetrahydrofolate reductase is important for a chemical reaction involving forms of the vitamin folate (also called vitamin B9). This enzyme converts a molecule called 5,10-methylenetetrahydrofolate to a molecule called 5-methyltetrahydrofolate. This reaction is required for the multistep process that converts the amino acid homocysteine to another amino acid, methionine. The body uses methionine to make proteins and other important compounds. [2]
    Although, there are over fifty known MTHFR variants, two are commonly tested C677T and A1298.
    Some of the key things methylation process is responsible for are:
    Cellular Repair – DNA repair is a collection of processes by which a cell identifies and corrects damage to the DNA molecules that encode its genome (genetic material of an organism). Detoxification and Neurotransmitter Production – The interconversion of amino acids. Healthy Immune System Function – Formation and maturation of red blood cells, white blood cells and platelet production. What's the Difference Between the Two Most Common Types?
    The 677T Variant is associated with heart disease and stroke whereas the 1298C is associated with a variety of chronic illness. Either one however can cause general health problems.
    Homozygous vs Heterozygous
    An organism can be homozygous dominant, if it carries two copies of the same dominant allele (allele - one of two or more alternative forms of a gene that arise by mutation and are found at the same place on a chromosome.), or homozygous recessive, if it carries two copies of the same recessive allele. Heterozygous means that an organism has two different alleles of a gene.
    If you are homozygous (2 abnormal copies) your enzyme efficiency drops to 10% - 20% of normal which can be problematic. A more serious combination is 677T/1298C which has both genetic anomalies.
    If you are having symptoms and can't quite put your finger on it I would suggest getting tested for the MTHFR. That will help your practitioner determine what supplementation best suits your needs. Diet will also be a factor as with MTHFR the body cannot process synthetic folate which is in fortified foods such as cereal, nutritional yeast (can get unfortified), breads, rice, pastas, flour, etc., This explains why I always got a headache after I ate fortified nutritional yeast. I switched to unfortified and I don't have the headaches.
    As mentioned above, there are many chronic conditions linked to MTHFR. Here are a few:
    Alzheimer's Autism Autoimmune Disorders Breast cancer Chronic Fatigue Down's Syndrome Fibromyalgia Heart Disease IBS (irritable bowel syndrome) Infertility in both men and women Mental disorders such as bipolar and schizophrenia Migraines Multiple Sclerosis (MS) Sensitivity to chemicals Stroke The Great Detoxifier
    Glutathione is the body's main antioxidant and detoxifier. What happens with MTHFR mutation is it can make you susceptible to disease by lowering your body's ability to make glutathione. Most people with MTHFR have low glutathione levels. With low glutathione levels, you are more sensitive to toxins and chemicals including heavy metals. The good news is you can supplement glutathione in the correct methyl form and change up your diet. More to come on this. With oxidative stress, we are more likely to have premature aging as well. Another reason to be aware of MTHFR and maintain a healthy high folate diet along with supporting supplementation.
    Testing
    If you have any of the symptoms above or have a family history with MTHFR mutations I highly recommend testing for both C677T and A1298. Testing can be done through a practitioner. You can go to 23andme and order the test or work with your health practitioner. It's inexpensive and well worth it. Also, testing your levels of glutathione and folate would be beneficial so your practitioner knows where your levels are before recommending supplementation.
    Supplementation for MTHFR
    If you are taking a B vitamin, make sure it's methyl-B12, methyl-folate. Taking synthetic forms (folic acid) can be more harmful than good because the body cannot do the conversion. It's essential to make sure that your method delivers the antioxidant efficiently to your cells. One of the B vitamins I recommend from Pure Genomics is their B Complex available on our marketplace.
    Glutathione is also important but hard to absorb so a liposome form is recommended or get one with a precursor called NAC (N-acetyl-cysteine). Glutathione is important for detoxification as mentioned. Here are a few to consider – Liposomal Glutathione by Pure Encapsulations as a liposome form With any supplement, you can have adverse effects so make sure you work with a knowledgeable practitioner.
    Diet and Lifestyle
    Folic Acid vs. Folate
    While folic acid and folate may be marketed interchangeably, as mentioned earlier, their metabolic effects can be quite different, especially for those with the MTHFR mutation. Folate is the bioavailable, natural form of vitamin B9 found in a variety of plant and animal foods. Folic acid, on the other hand while readily utilized by the body is synthetic. Folate is found in supplements and fortified foods such as cereals and might I add nutritional yeast. The body is more adept at using folate and regulates healthy levels by discarding excess folate in urine. With MTHFR folic acid can be problematic so make sure you purge the folic acid rich foods and supplements. For those who love the flavor of nutritional yeast and use it in vegan recipes there are a few companies who make unfortified versions you can get off amazon.
    Daily lifestyle activities such as dry brushing (lymphatic circulation) Epsom salt baths, exercise, sauna's (infrared sauna is amazing) and of course a healthy diet rich in natural forms of folate such as:
    Beans and lentils Leafy green vegetables including raw spinach Asparagus Romaine Lettuce Broccoli Avocado Bright-colored fruits, such as papaya and orange Here are just a few examples of some folate rich foods. As you can see spinach packs a powerful punch of folate as well as papaya and lentils coming in the highest. [2]
    Source
     
    Spinach
    Asparagus
    Papaya
    Orange
    Lentils
    Pinto Beans
    Sunflower Seeds
    Serving Size
     
    1 Cup
    1 Cup
    1 papaya
    1 orange
    1 Cup
    1 Cup
    ¼ Cup
     
    Folate
     
    263 mcg
    262 mcg
    115 mcg
    40 mcg
    358 mcg
    294 mcg
    82 mcg
    DV %
     
    65%
    64%
    29%
    10%
    90%
    74%
    21%
    Did you know your liver needs glutathione to produce bile in addition to the detoxification process? Look at addressing health issues such as leaky gut, IBS and Inflammation as these can affect absorption and neurotransmitter levels as well as hormones with MTHFR A1298C mutations.
    MTHFR mutations are tied to higher mental disorders such as anxiety, depression, bipolar and schizophrenia as well as chronic fatigue and fibromyalgia. It's important to find ways to manage the stressors in addition to healing the gut as symptoms can be heightened with MTHFR.
    Protect the heart with an anti-inflammatory diet rich in omegas, fiber and plants. Omega 3 and COQ10 supplementation is helpful. A good multi is beneficial as long as you get one with B12 (methyl cobalamin) and Folate (methyl tetrahydrofolate) forms.
    Drug Interactions to consider
    You should not use any supplements without first talking to your health care provider. For example, folate should not be taken at the same time as the antibiotic tetracycline because it interferes with the absorption and effectiveness of this medication. Folate is necessary if taking medications for birth control, cholesterol or seizures for example as they may lower folic acid levels in the body. Dosage and timing is important to know.
    Here are some medications to keep in mind:
    Antacids, H2 blockers, proton pump inhibitors Bile acid sequestrants Carbamazepine Nonsteroidal anti-inflammatory drugs (NSAIDs) Sulfasalazine Triamterene When taken for long periods of time, these medications, as well as other anti-inflammatory and anti-seizure medicines, can increase the body's need for folic acid.
    Also consider drugs used for cancer, rheumatoid arthritis and psoriasis as those also reduce the folic acid in the body. Supplementing folic acid can help reduce symptoms of these disorders however with cancer, folic acid may interfere with methotrexates effects on treatment. Talk with your practitioner if you are taking any medications. [3]
    Knowing your DNA make up is important as is knowing your numbers (blood pressure, cholesterol, etc.) so you can keep a handle on your health and do your best to control stress. Getting tested for the MTHFR mutation is worth knowing whether it comes up or not. It can make all the difference in aging and detoxing and give you a peace of mind.
    Sources:
    https://draxe.com/mthfr-mutation/  http://doccarnahan.blogspot.com/2013/05/mthfr-gene-mutation-whats-big-deal.html  https://www.jillcarnahan.com/2014/02/23/health-tips-for-anyone-with-a-mthfr-gene-mutation/ 

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