Hi all, I’ve just got my 23andme interpretation from Genetic Genie as was wondering if anyone had any thoughts on treatments and potential issues. There are many discussions on … Every few years 23andMe changes their chip, and with it many of the SNPs that they sequence. Although in the past year and a half I’ve done a lot of searching on MTHFR on the internet, I just came across your blog today. I am heterozygous mthfr 1298 and 03 p39p. MTHFR (heterozygous mutation) – This enzyme has global effects for immune function, muscle metabolism, neurochemical production and regulation, and detoxification.It is the enzyme most in … There have been a number of interesting research articles that have come out. That you could experience with the MTHFR gene mutation. 2013 Jul;25(4 Suppl):57S-63S. In other words, they look through the whole puzzle and say, “This is what doctors need to know, and what they should consider doing.” After that, I may add just a couple very new research studies that would not have been included in the reviews. ( Log Out /  Here we will look at each possibility and the symptoms. 2007 Jan;39(1):17-23. Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry. I thought I’d joined that group, but evidently not, so just did. (3) No professional assistance. So, to start off, here is the Pubmed search strategy I’m using to try to get to just high quality research on this topic. To make this clear to everyone. Since this topic actually has fairly deep roots in the literature, going back to at least the early 1990s, I’ll be selective and focus on newer articles. Posted link to blog on https://groups.yahoo.com/neo/groups/MTHFRonly/conversations/messages/36. Despite its prevalence, the genetic etiology of sporadic VCI is largely unknown. 2013 There are several MTHFR variations which are considered potential problems. Not everyone who suspects they might have a mutation needs to test. There are several MTHFR variations which are considered potential problems. You can edit the minor allele as needed using, A risk allele and a minor allele are not always the same. We selected twenty genes from the “Top Results” list on the AlzGene database website and assessed their association with risk of developing Alzheimer’s disease (AD) in a large, genome-wide association study (using 526 SNPs from 2,032 AD cases and 5,328 controls) performed in France. No clear consensus has been reached at the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and Alzheimer’s disease (AD) risk. A study that shows that one of them does something (or does not) says absolutely nothing about the other variants. I am heterozygous for COMT V158M, COMT H62H, MTHFR 03 P39P, MTHFR A1298C, MTRR R415T. (1) No advice. Although to some degree impeded by low statistical power for some of these conditions, these data suggest that sequence variants that contribute to the population diversity in serum B(12) or folate levels do not modify the risk of developing these conditions. Normal … Hi Angbrig, many people with MTHFR mutations or other methylation mutations, have tried using MethylGuard, but it did not help, but rather confounded the situation. I was very sorry to hear about your difficulties in the last year. We don’t know her MTHFR status because we couldn’t get her genome tested, but we do know from testing other family members that she had at least one copy of the A1298c polymorphism. In conclusion, this meta-analysis supports that MTHFR C677T polymorphism is capable of causing AD susceptibility in East Asians, not in Caucasians. For example the SNP CBS C699T has RefSNPs A/G. One of the biggest concerns for those with an MTHFR … These are the polymorphisms which Genetic Genie will report on if you upload your DNA analysis from 23andme to them. I would be very interested to see your slide presentation that you mentioned you might post one day. Epub 2013 Jun 6. But also this causes several major problems that all have their own set of symptoms. Also, for some poeple with health-related anxiety, testing might actually increase anxiety without giving you positive benefits. The data demonstrated that the frequency of T677 allele (T vs. C) was significantly associated with susceptibility to AD in all subjects (OR=1.15, 95% CI=1.06-1.26) and in East Asians (OR=1.22, 95% CI=1.08-1.39). Change ), You are commenting using your Facebook account. Minor alleles used in computing phenotype will vary based on DNA strand orientation. Great Plains Laboratory, Inc. has a good 53 minute webinair about “Alzheimer’s Disease and Dementia – The Important Role of Methylcobalamin (B12) and Methylation Therapy” by Dr. Woeller. MTHFR A1298C = heterozygous mutation (one mutation) MTHFR C1298C = homozygous mutation (two mutations) MTHFR C677T + MTHFR A1298C = a compound heterozygous mutation; MTHFR C677T and A1298C and Homocysteine. Poof! As a medical librarian who works with systematic reviews, I’m on a number of medical and library email lists with various medical experts in different disciplines. Epub 2010 May 2. It took me years to admit this to my doctor, and then brought it up at every appointment for the next few years. doi: 10.1371/journal.pgen.1003530. 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. 2013 Sep;115(9):1693-6. doi: 10.1016/j.clineuro.2013.03.015. … A subgroup analysis in the subjects without APOE epsilon4 alleles showed T677 allele significantly increased risk of AD in all subjects (OR=1.21, 95% CI: 1.04-1.42) and in East Asians (OR=1.28, 95% CI: 1.06-1.55). This means that a genetic researcher found allele A on one DNA strand and G There was marginal evidence of a protective effect for APOE ε2 (0.885 (95% CI = 0.783-0.999), p = 0.048; n = 3,320 cases, n = 10,786 controls). The MTHFR gene produces the MTHFR enzyme. If it was me or my loved one, I’d wonder if it is worth at least doing a test and considering possible low levels of supplementation with methylfolate as a low-cost, low-risk intervention, and then seeing how the patient responds. RESULTS: A total of 11 studies, comprising 672 cases and 1038 controls, were included worldwide. Although I’ve only skimmed a few of your posts on MTHFR so far, and I’m sure I missed a lot of content, there are a few things that I thought I’d comment about now. (b) the information on this website is complete, true, or up-to date. Vascular cognitive impairment (VCI), including vascular dementia, is the second most common dementia after Alzheimer’s disease. I’m pretty much a newbie when it comes to MTHFR. Good wishes to you! Our data suggest an association between the MTHFR A1298C mutation and AD; however, the MTHFR C677T mutation did not contribute to susceptibility for AD. There has been so much happening in this space about which I really WANTED to write! Change ), You are commenting using your Google account. Single nucleotide polymorphisms, frequently called SNPs (pronounced 'snips'), are the most common type of genetic variation among people. Association of methylenetetrahydrofolate reductase polymorphisms with susceptibility to Alzheimer’s disease. This study investigated the relationship between N5,N10-methylene tetrahydrofolic acid reductase (MTHFR) polymorphisms, smoking, and vascular dementia (VD). I have homozygous MTHFR A1298C and heterozygous for MTHFR 03 P39P… I did a presentation about my condition and meant to share the slides here. The Livewello Gene application provides general, interesting and entertaining information regarding genetic disorders. I sent him my search strategy and a few selected citations, and hoped for the best. It’s been over a year since I posted here. The MTHFR C677T polymorphism contributes to an increased risk for vascular dementia: a meta-analysis. Hyperhomocysteinemia in Alzheimer’s disease: the hen and the egg? Grarup N, Sulem P, Sandholt CH, Thorleifsson G, Ahluwalia TS, Steinthorsdottir V, Bjarnason H, Gudbjartsson DF, Magnusson OT, Sparsø T, Albrechtsen A, Kong A, Masson G, Tian G, Cao H, Nie C, Kristiansen K, Husemoen LL, Thuesen B, Li Y, Nielsen R, Linneberg A, Olafsson I, Eyjolfsson GI, Jørgensen T, Wang J, Hansen T, Thorsteinsdottir U, Stefánsson K, Pedersen O. RefSNP Alleles –The late researcher Dr. Rich van Konynenberg wrote a lot of thoughtful, helpful, knowledgeable posts/articles about MTHFR, folate, B12, etc. You need methionine for your body to make proteins. The big ones are C677t and A1298c, with newer and less well understood, the MTHFR 03 P39P. In the remaining ten genes/loci (TNK1, ACE, CST3, IL1B, hCG2039140, PRNP, GAB2, LOC651924, IL1A, and TF), no single nucleotide polymorphisms were associated in our dataset. Reduced Risk in people with GG genotype ( Odds Ratio: 0.53 ). J Alzheimers Dis. J Neurol Sci. Today, that results in 121 citations. urged to consult with a qualified physician for diagnosis and for answers to personal questions. (mthfr OR methylfolate OR L-methylfolate OR Methylenetetrahydrofolate OR 5-mthf OR l-5-mthf) (“alzheimer disease”[MeSH Terms] OR “Mild Cognitive Impairment”[MeSH Terms] OR “dementia, vascular”[MeSH Terms] OR “dementia”[MeSH Terms] OR “Cognition Disorders”[MeSH Terms] OR “memory disorders”[MeSH Terms] OR “amnesia”[MeSH Terms]). That’s an excellent reason for me to stick to the evidence and what it says instead of trying to interpret it for you. If you think you may be suffering from any medical condition you should seek immediate medical attention. Of the genes showing nominal association in our cohorts, TFAM and CHRNB2 appear particularly interesting and warrant further genetic and functional follow-up analyses. Epub 2010 Jun 30. MTHFR 03 P39P MTHFR A1298C Now let's move on to discuss what these MTHFR mutation(s) mean. Fill in your details below or click an icon to log in: You are commenting using your WordPress.com account. Hyperhomocysteinemia is associated with Alzheimer’s disease (AD). MTHFR A1298C MTHFR A1298C is involved in converting 5-methylfolate (5MTHF) to tetrahydrofolate (THF). Using Alzgene-like approaches to investigate susceptibility genes for vascular cognitive impairment. (a) limit or exclude our liability for death or personal injury resulting from negligence; Because of the potential harms from genetic test information and Bertram L, McQueen MB, Mullin K, Blacker D, Tanzi RE. * MTHFR A1298c = rs1801131 2013 Conditional analyses established that four loci contain additional independent signals. But it doesnt always appear as the firs… –You wrote at one point that you had heard that MTHFR might have something to do with autism, but you were not aware that it’s been studied much – one healthcare professional (a nutritionist) who does look into it deeply is Amy Yasko, whom you may have heard of. Thus in this meta-analysis, a total of 19 case-control studies was assessed to evaluate the possible association. Ten genes/loci (TFAM, SORL1, CHRNB2, SORCS1, DAPK1, MTHFR, GWA 14q32.13, BDNF, NEDD9, and CH25H) showed weak nominal association with AD risk, in line with previous studies. The latter enzyme works with folate (B9), breaking it down from 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate 5-methyltetrahydrofolate helps … This systematic study of all published genetic association studies of sporadic VCI supports MTHFR and APOE as susceptibility genes for VCI. Study on rs17367504 - Blood pressure. The symptoms of MTHFR are, to say the least very complicated. The APOE, CLU, PICALM, and CR1 loci were excluded, since they had already been extensively analyzed. Reply. Up to 22.9 million sequence variants were analyzed in combined samples of 45,576 and 37,341 individuals with serum B(12) and folate measurements, respectively. Epub 2013 Jul 15. I landed somewhere in the middle (from the search engine search) of your timeline, skimmed a bit, and wondered why you had seemed to stop posting a year ago – then I clicked on the most recent month’s archives and read this post. To get your results for 45 SNPs in this gene template, click the Purchase app button above, 404 followers Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database. The information is not advice, and should not be treated as such. CONCLUSION: The MTHFR A1298C polymorphism is a possible risk factor for Alzheimer's disease. Because of my ongoing challenges with typing, I’m going to keep this simple, by selecting examples of the research and giving very brief snippets of the key findings. Change ), Alzheimer’s, Cognitive Impairment, & MTHFR Genetics, I am limiting this to systematic reviews and meta-analyses, the very top quality evidence available, Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database, Systematic analysis of candidate genes for Alzheimer’s disease in a French, genome-wide association study, The MTHFR C677T polymorphism contributes to an increased risk for vascular dementia: a meta-analysis, Meta-analysis of the methylenetetrahydrofolate reductase C677T polymorphism and susceptibility to Alzheimer’s disease. You should never delay seeking medical advice, disregard medical advice, or discontinue medical treatment because of information on this website. I may still, someday, write about these things. The SNPs (snips) for these are: * MTHFR … I’ve heard that from a number of places, but have a particular story that really rammed it home for me. Therefore, the smoking group with the T allele has the highest risk of VD, and synergy appears to exist between the MTHFR gene polymorphisms and smoking in susceptibility to VD. Dr. Woeller has written a book by that title, and also a website http://www.MethylB12forAlzheimers.com.   The gathering of these large aggregated studies together confirms a solid connection in some populations and is suggestive that may not have enough data to know yet about other populations. https://groups.yahoo.com/neo/groups/MTHFRonly/conversations/messages/36. Other MTHFR Snps. You must not rely on the information on this website as an alternative to medical advice from your doctor or other professional healthcare provider. Other than that I have COMT homozygous and a bunch of other things. I’m hoping that someone will show this to her doctor, and if that doesn’t happen, maybe it will help someone else. Contrary to epidemiological studies we did not find consistent association of the variants with cardiovascular diseases, cancers or Alzheimer’s disease although some variants demonstrated pleiotropic effects. So, yes, I have a personal bias regarding this. The SNPs (snips) for these are: Genetic architecture of vitamin B12 and folate levels uncovered applying deeply sequenced large datasets. In that time, just to touch on the high points, my mother died and I suffered a major injury to my right arm which makes it hard for me to type and write and such. MTHFR A1298C. Folic acid- had … She first said “adrenal fatigue” and as we talked more about my family history, she recommended me get tested for the mthfr mutation. This enzyme plays a role in … The allele that occurs more frequently is thought to represent a normal phenotype, while the other one represents an abnormal phenotype. Unlike MTHFR … doi: 10.1177/1010539513492819. An MTHFR mutation can … With a few simple changes and some professional advice, you may be able to alleviate some symptoms laid out in this article. Minor alleles or Minor Allele Frequency is value representing the percentage of people in the default global population, who carry a variant allele. Int J Neurosci. 2013 Jan 1;34(1):145-54. doi: 10.3233/JAD-121069. I’ve … MTHFR C677T MTHFR 03 P39P MTHFR A1298C … More The MTHFR polymorphism. the need for patients and their families to receive appropriate information for decision making, patients with possible inherited diseases should undergo genetic testing only in the context of genetic counseling. Meta-analysis of the methylenetetrahydrofolate reductase C677T polymorphism and susceptibility to Alzheimer’s disease. Nat Genet. Methylation for Dummies. Genetic architecture of vitamin B12 and folate levels uncovered applying deeply sequenced large datasets. He wasn’t convinced, and was reluctant to support the family with this request. Association between MTHFR gene polymorphisms, smoking, and the incidence of vascular dementia. The appropriate risk allele can only be determined by genome-wide studies. Each SNP represents a difference in a single DNA building block, called a nucleotide. Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. 2013 Jun;9(6):e1003530. Though she promotes her own (expensive) genetic testing, supplements, and retail books, she has put a lot of her material online for free (especially if one digs around a little), including entire books and video presentations. Association between MTHFR gene polymorphisms, smoking, and the incidence of vascular dementia. Now it is my friend, and I’m not close enough to talk with her clinicians. It is not intended for use as a diagnostic or therapeuatic tool. It stands for Reference SNP cluster ID. Mansouri L1, Fekih-Mrissa N, Klai S, Mansour M, Gritli N, Mrissa R. Association of methylenetetrahydrofolate reductase polymorphisms with susceptibility to Alzheimer’s disease. Ambigous RefSNP Alleles Study on rs1801133 - Homocysteine levels. But he found enough evidence in support of the idea that he wanted to ask other professionals about the idea, and whether any of them had strong feelings about this. That was someone far away, in another country. Because MTHFR gene mutations dont just cause a problem with folate metabolism. Create a free website or blog at WordPress.com. A minor allele is the one (of 2 alleles) that occurs with less frequency in the default general population. In other words, what’s most important. Some mutations of the MTHFR gene may be associated with health problems and complications in pregnancy. MTHFR 03 P39P +/-Methyl folate - my brain feels toxic and brain foggy worst. (a) the information on this website will be constantly available, or available at all; or 352 templates. Answer: To put it simply, the MTHFR gene contains instructions for the body to build enzymes, proteins that help the body perform chemical reactions. Unlike MTHFR … ( Log Out /  Then, in the final part of her life my mother had cognitive decline. For me, I will say that while some of these show a strong connection and others only a weak connection, there aren’t any that show no connection or the opposite. For example, a SNP may replace the nucleotide cytosine (C) with the nucleotide thymine (T) in a certain stretch of DNA. We make no representations or warranties in relation to the information on this website. We found six novel loci associating with serum B(12) (CD320, TCN2, ABCD4, MMAA, MMACHC) or folate levels (FOLR3) and confirmed seven loci for these traits (TCN1, FUT6, FUT2, CUBN, CLYBL, MUT, MTHFR). MTHFR 03 P39P. The MTHFR gene also helps your body convert an amino acid known as homocysteine into another very important type of amino acid known as methionine. I was told at the time that she had Alzheimer’s, and it frankly terrified me. When I was 12 I was briefly a significant part of my grandmother’s caregiving team. As is true for any gene, the DNA code of the MTHFR … Yet, the study demonstrates the value of combining whole genome and exome sequencing approaches to ascertain the genetic and molecular architectures underlying quantitative trait associations. I won’t bore you with what didn’t work, but when I serendipitously discovered the MTHFR deficiency and began taking methylfolate, all my memory problems disappeared. RESULTS: This meta-analysis demonstrated that the MTHFR T allele or dominant model for T allele (CT + TT) had an increased risk for AD in combined populations (OR, 95% CI: 1.13, 1.05-1.21; 1.18, 1.07-1.31, respectively), and a significant association was found in allele contrast, recessive, and dominant model in Asian populations, but not in Caucasian populations. 2010 Interesting post! Thanks! 2010 Oct;68(2):142-50. doi: 10.1016/j.neures.2010.06.011. different researchers submit conflicting information about RefSNP alleles, then it is possible for more than 2 alleles to be listed for one SNP, making it more difficult to determine the correct minor allele. MTHFR 03 P39P; MTHFR A*372C; A1572G; MTHFR A4117C; MTHFR … CONCLUSION: The MTHFR C677T polymorphism is associated with AD in Asian populations, but not in Caucasians. The reason why I want to do this is because a friend of mine was recently diagnosed with one of these conditions, and so many doctors are not aware of this connection and don’t look for it. 3 Comments The MTHFR polymorphism. Epub 2011 Jun 10. To be even more selective, I am limiting this to systematic reviews and meta-analyses, the very top quality evidence available, and only the most recent of those available in English. Among patients who smoked, the relative risk of VD in patients with the TT genotype and T allele was higher than in the control group (P < .05). Clin Neurol Neurosurg. 2010;20(4):1181-8. doi: 10.3233/JAD-2010-100126. Hi Patricia, A MTHFR C677T mutation means that the MTHFR … (2) No warranties. CONCLUSION: The MTHFR C677T polymorphism (mainly TT genotype) is associated with developing VaD in general populations or Asian populations. Just like that. The explanation section firstly went through my MTHFR results (shown below), which revealed that in two of the three variations, I had one homozygous mutation (in MTHFR A1298C), and one heterozygous mutation (in MTHFR 03 P39P). Such a vicious cycle may be breakable by dietary or supplementation strategies increasing the availability of 5-MTHF. MTHFR C677T. The information on this website is provided without any representations or warranties, express or implied. Dwyer R, Skrobot OA, Dwyer J, Munafo M, Kehoe PG. Systematic reviews and meta-analyses distill the best evidence available into recommendations for clinical practice. Interestingly, 13 of the 18 identified variants were coding and 11 of the 13 target genes have known functions related to B(12) and folate pathways. There are lots of reasons why. 2013 This website contains general information about medical conditions and treatments. While the Livewello Gene app is open to the public, users seeking information about a personal medical or genetic condition are 2010 MTHFR A1298C = at nucleotide 1298, the adenine changes to a cytosine causing glutamate to switch to alanine. Epub 2013 May 6. Association between the MTHFR gene and Alzheimer’s disease: a meta-analysis. I am not necessarily endorsing her approach generally, and I do not have a personal interest in autism per se (though I probably have a touch of high-functioning female Aspergers sort of thing) and I don’t know how accurate her claims are about the condition, but I have learned some interesting things about genetics and supplements from some of her material (that I double-checked with other sources, and maintain a healthy skepticism about), so if you haven’t heard of her, I thought I’d pass the name along.