half the people i know have P5P/MF, a gene/enzyme dysfunction involved in similar etiology, dysfunction pathways, and symptoms as MTHFR, but because 50% of the population has at least 1 MTHFR mutation, and as the etiology, dysfunction pathways, symptoms and treatments for both appear largely similar...
until you know if you have either or both mutations thus impaired/suboptimized health, the steps on what to do for MTHFR runs a 50/50 chance at applying to you or your loved ones.
and if you have any recurring pains or odd issues as simple as acne/allergies, frequent/long colds, fibromyalgia/adhd, feel low energy or 'not like yourself', have taken any rx/antibiotics/aspirin in last 5 years...
your genes help you know the root layer of all else, see what rx/vitamins/treatments your profile will not tolerate, know why you're reacting to this or that, lets you see under the hood.
i like the average jane flavor of this hip mom's outline - had a real laugh half way in. some important clues came out of watching the videos she includes too so i include this read.
her title grabbed me as i too tested 'compound hetero' MTHFR which means one mutation came from mom, one from dad. studies est. prevalence at 15-20% of population US/CAN.
this is her beginner's guide as to first 5 steps to assessing/understanding MTHFR and what mistakes to avoid. as the entire blog is essentially 'notes to self' as i digest data, i parsed out half of her page to cut it in half - trim fat i didn't need...
one takeaway: its important to not just start taking supplements before identifying your full genetic profile, as you could be causing more damage/stress with the wrong forms of B9/B12, so you gotta first get your full DNA tested first to know what other mutations you may need to consider and deal with first or in tandem, as is commonly the case. some matter less, some more. if you have SHMT or ACAT or CBS, you'll need to address those first, whereas you treat MTHFR, MTR, BHMT, MAO A, SUOX, NOS, VDR secondary to that.
so in addition to key intracellular serum urine tests, you'll need a basic $99 genealogy DNA test that generates a raw DNA file with the starter data you need to know to self-advocate/doctor. a bonus is you'll get all kinds of ancestral genealogical information too.
I'm a Compound, Hetero MTHFR! Now what? | Jane Know It All
https://janeknowitall1.wordpress.com/2015/03/25/im-a-compound-hetero-mthfr-now-what/
98% of those with autism have the "Compound Hetero" MTHFR mutation
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MTHFR = Methylenetetrahydrofolate reductase.
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Know your MTHFR status before playing the supplement guessing game.
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I was doing post-bacc [post bachelor] work in Anthropology and Geology back then and had to drop out because I could not get out of bed and go to class. MTHFR derailed my life. It's that serious. I'm suddenly sad thinking about it. I no longer have student aid to finish and owe my college over 2 large so they hold my transcripts. MTHFR!
When you learn what mutations you have, you can start to learn what supplements to avoid. I learned that Gavin is an over-methylator.
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quick note: niacin sucks up methyl groups…
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2. How to find your mutations. 23andme.
Yes, you can probably convince your health insurance to test for the common MTHFR genes SNPs. BUT…. it's one tiny slice of the big picture. You need to know what is going on in the cycles leading up to the methylation cycle and the ones that follow.
You really need to drop the $99 on the 23andme DNA test. Each additional test is $79, and with shipping it averages $100 a test.
Yes, you can probably convince your health insurance to test for the common MTHFR genes SNPs. BUT…. it's one tiny slice of the big picture. You need to know what is going on in the cycles leading up to the methylation cycle and the ones that follow.
You really need to drop the $99 on the 23andme DNA test. Each additional test is $79, and with shipping it averages $100 a test.
But Jane! 23andme got in trouble with the FDA for giving out health reports and they don't do that anymore! Yes!! You are correct, but there are third party websites that you can run your raw data thru to get all the juicy info! 23andme gives you great ancestry info (I love finding new cousins!) AND it gives you a raw data file of your DNA to upload to those third party sites. [distributing raw truth genomic data can get you in trouble if the pharma/medicine establishment feels threatened, they'll get their cronies at the FDA to block any outsiders cutting into establishment profit channels re medicine/disease. outsiders get squashed or manage to eventually negotiate a deal as these DNA groups do, where they agree to pull all medical reports claims references for now, until they square deals where they sell big pharma access to all client DNA data in order to market costly rx solutions. they got in trouble not for being inaccurate, but for racing a horse too fast without a rider.]
If you order through this link, I get a $10 amazon gift card for referring you. Free Amazon money keeps me in supplements and Kidz Bop albums. Thanks in advance! [i'll have to get on that program and advocate my own amazon link to do the same... and i should do it now... its high on my 15-year todo alongside building a blogstore for supplements etc.]
What to do with that raw data.
1. Genetic Genie.
It's free, but they do ask for a donation. Give them some money.
This is a bit of a *lite* report, but a great place to start. You download your raw genetic data from 23andme after it's made available to you, and then upload it to this site. Genetic Genie will spit you out a basic report to let you know your MTHFR, CBS, COMT, VDR and a few other basics. Along with some general info on what the mutations may mean. There is also a detox pathway report, and I admit… I haven't even begun to learn what all that means, yet.
It's free, but they do ask for a donation. Give them some money.
This is a bit of a *lite* report, but a great place to start. You download your raw genetic data from 23andme after it's made available to you, and then upload it to this site. Genetic Genie will spit you out a basic report to let you know your MTHFR, CBS, COMT, VDR and a few other basics. Along with some general info on what the mutations may mean. There is also a detox pathway report, and I admit… I haven't even begun to learn what all that means, yet.
SIDE BAR: Just because you have a mutation, doesn't mean it's causing you a problem… but it could and it might be. ... You should have lab work done to help you determine *if* you have a problem caused by these gene mutations. Sometimes mutations cancel each other out in a weird way, so you need to follow up with labs. For example… for all our mutations… my kids folate levels are fine. Who knows why. Seriously… who knows why?? You'd think their folate would be low, we don't supplement!
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2. Promethease.
$5 per report. This one is close to the old 23andme health reports. You kinda have to search for things and know what you are looking for.
$5 per report. This one is close to the old 23andme health reports. You kinda have to search for things and know what you are looking for.
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3. MTHFR Support, Sterling's App
$30 each. Pricey, yeah, especially when you're looking at your whole family… but this is a GOOD one. They just added a bunch of new SNPs, too. I bought the new version of the report recently and they've added a ton, plus it comes with free updates from here on out. Worth it, as this is an evolving science. This one will give you hours and hours… and hours… and hours of future research. It's a 42 page PDF file full of info. ...
$30 each. Pricey, yeah, especially when you're looking at your whole family… but this is a GOOD one. They just added a bunch of new SNPs, too. I bought the new version of the report recently and they've added a ton, plus it comes with free updates from here on out. Worth it, as this is an evolving science. This one will give you hours and hours… and hours… and hours of future research. It's a 42 page PDF file full of info. ...
4. Livewello App
$20 per person and it looks promising. ...
$20 per person and it looks promising. ...
5. Dr. Amy's Methylation Pathway Analysis (MPA)Free. Yes, you should do it, there is a lot of good info there and pretty picture of cellular metabolism cycles! Who doesn't enjoy that shiz? But if you are new to this, it's going to be wicked confusing.
You will want to read Yasko's books first. And get to know Dr. Ben's stuff first, too (links to come). Also, here is what I noticed… it doesn't cross-check with contraindicated stuff… so… it might recommend one supplement that it *thinks* you need based on one mutation, but then you know it's something you should avoid because of another mutation. ...
Let's recap.
1. Order your 23andme tests. Your kids have these mutations, I'd bet on it… and so do you. Moms. Dads. We need to live forever. We NEED to know. Sometimes I ponder all those friends and family members we've known to have dropped dead of a heart attack in their 30s or 40s or 50s and we all sat around saying, "WHY?? He/She was so young!" …
1. Order your 23andme tests. Your kids have these mutations, I'd bet on it… and so do you. Moms. Dads. We need to live forever. We NEED to know. Sometimes I ponder all those friends and family members we've known to have dropped dead of a heart attack in their 30s or 40s or 50s and we all sat around saying, "WHY?? He/She was so young!" …
2. Run the raw data thru an app to find out your MTHFR status. [start with Genetic Genie report, then maybe install the MTHFR Support, Sterling's App]
3. Get educated.
Onto Part 2. The above, Part 1… that is for you people with the idea in your head already that you need to do the test, or maybe you already have and don't know what to do with your results. Maybe, however, some of you have no MTHFR'ing idea what I am talking about.
Part 2. What is MTHFR/Where to go to learn more.
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I came across this blog recently. She's good… why am I even writing this part… just go read hers 
Be sure to watch the videos she links to in her post.
Be sure to watch the videos she links to in her post.
So first I stumbled across Dr. Ben Lynch
I heard of MTHFR and "over-methylating" a couple years before I took the plunge. It just seemed like *ONE MORE THING* to give me a headache, to overwhelm me. But one day I clicked on a recording of an interview done by Dr. Ben Lynch that was an overview on MTHFR and the light bulb went off. I had already heard the rumblings that it's likely in kids with autism (Specifically the compound hetero combo of 1298 and 677) –but in that interview he stated it was even more common in Southern Italians. Well… I have this lovely "Dysfunctional Family Tree" (that's what I call it). It's the Southern Italian side of my family… and it's FULL of conditions associated with MTHFR mutations. Each generation a little worse (as toxin exposure increased).
I started to read Dr. Lynch's website, putting the pieces together in my over-worked brain and knew, KNEW, that we had these mutations before I even saw the test results –and I was right.
Devour his website. His videos. All of it. Eat it… Drink it… sleep and breath every drop. Here is his "Read This First" page.
You know, I found out that Gavin has spina bifida occulta. He has Chiari, scoliosis… These are neural tube issues. These are signs of MTHFR. The more you read –those light bulbs will start exploding over your head!
Ben has a little booklet too, a brief summary. He's working on a bigger book. I can't wait!!
MTHFR Basics. It's 99 cents, or free with Kindle Unlimited, or free in the Prime lending library.
NOTE: In that first interview I listened to, while MTHFR mutations were more common in Southern Italians, they had less symptoms… Diet? Diet! I say again, genes are not your destiny. Clean living, diet and detox can fix a lot of these MTHFRin' problems!
Amy Yasko
God I love her… her brain. When she talks it's this avalanche of amazing and I have to watch and re-watch and pause and take notes. I am certain she dreams about cellular metabolism every time she catches some sleep. If she sleeps…
God I love her… her brain. When she talks it's this avalanche of amazing and I have to watch and re-watch and pause and take notes. I am certain she dreams about cellular metabolism every time she catches some sleep. If she sleeps…
Her wait list was so long that she stopped taking on patients and just puts all the info on her websites for free in an effort to help as many kids as she can. Rock star.
NOTE: There are a couple mutations that Dr. Amy's DNA test checks for that 23andme does NOT test for (SOUX and one of the BHMTs off the top of my head), but her test is $500. Yeah. So if you have the $500, go for it. Someday I *might* do that test for Gavin as I try to untangle the mess that is his genome.
She has a book, too. If you are new to this, it's a good read. I didn't learn much new, so if you are a pro… I guess you can skip it, but for $9, whatever. Feel Good Nutrigenomics. The more detailed stuff is on her website. But, I highly recommend this book for noobs!
Here is one of her links, it links you to all her pages:
HolisticHealth.com
HolisticHealth.com
But her original book and workbook… it's on the Dr Amy site.
Direct link to the PDF of the book here: Autism: Pathways to RecoveryWeb version here.
Direct link to the PDF of the book here: Autism: Pathways to RecoveryWeb version here.
Click that resource tab, click that "approach" tab. So much good information there. Videos, presentations, online discussion group…
Watch these videos.Her video about the lithium connection is what got me to have my son's levels tested and there was nothing there, they ran the test twice to make sure. Kid was seriously low on lithium and lithium is pretty damn important.
Also, one of the new things I learned from her new book, was that you need to have lithium levels up before supplementing with B12. So I pulled back on his B12 until his I run labs again to check his lithium levels.
It's all pretty damn confusing. It really is…
Search out groups on Facebook, there are several. I can't really recommend because while I am member of a few, I don't follow them too closely; I can't tell you the best ones. Ask your friends.
Once you know your specific mutations you can even search for groups specific to that. My youngest has a homozygous mutation on 677, I found a group for that! (This means he only methylates at 30%) I guess you can start here though, this group has over 11K members.
Follow Dr Ben and Yasko on Facebook, too.
Once you know your specific mutations you can even search for groups specific to that. My youngest has a homozygous mutation on 677, I found a group for that! (This means he only methylates at 30%) I guess you can start here though, this group has over 11K members.
Follow Dr Ben and Yasko on Facebook, too.
Some youtube videos:
I feel like this is more than enough today. In the future I will post smaller blogs about specific issue.
In closing…
lyrics: i get knocked down, but I get up again, You are never gonna keep me down...https://youtu.be/2H5uWRjFsGc
You're Welcome!~Jane
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notes from videos listed
notes from videos listed
rich van konynenburg methylation protocol/tests are a simplified version of yasko's protocols/tests, costs half as much but doesnt work for all
hybrid protocols, best of both, less expensive/complicated than yasko , get your snps tested at 23andme.com, take raw data and upload to methylation analyzer at geneticgenie.org, it will output a chart, if you have SHMT or ACAT or CBS, you'll need to address those first. second priority mutations: MTHFR, MTR, BHMT, MAO A, SUOX, NOS, VDR.
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