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confused about ordering MTHFR mutation test


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16 replies to this topic

#1 eamom

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Posted 30 March 2012 - 10:06 PM

Well, I asked the ped to test dd for this ... I gave her the form LMM had posted so she would know what test it was http://www.questdiag...tml&labCode=NEL

Apparently dh looked at what she ordered...and it was ONLY the MTHFR C677t test ... I didn't realize each had to be ordered separately?

I'm sort of confused...was everyone that was getting tested, getting tested for BOTH C677T and A1298C?

Which one are PANDAS kids coming up positive on? Is it the C677T test that is associated with dopamine/serotonin/mental illness or both?


#2 nancyd

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Posted 31 March 2012 - 01:05 AM

As I recall, our script just said MTHFR DNA testing (or something like that). I don't remember seeing C677T or A1298C anywhere on the script. I could be wrong but I thought it was one test that looks for two mutations.

Edited by NancyD, 31 March 2012 - 01:06 AM.


#3 llm

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Posted 31 March 2012 - 03:00 AM

Agree with Nancy - one test looked for both. http://www.questdiag...rectFrom=search This is the test we had done and got results on both C677T and A1298C. I don't see where the description says it only tests for the C677?

My DS had no polymorphisms. My DD had the C677T polymorphism, which is more "serious" in that it carries a higher risk of heart disease, stroke etc. It's treated by supplementing with methylfolate instead of the regular folate found in mutlivitamins. However, having the mutation doesn't mean you're deficient. You should still test folate levels. DD is actually high in folate and B12 and doesn't need more. The mutation just means your body is less efficient in converting folate into methylfolate. So DD converts maybe 60% of what she takes in. But apparently, she takes in quite a bit and doesn't need supplements.

I think MommaKath's son had both polymorphisms but not sure. This has two implications - first if you have BOTH mutations, your body is even more inefficient and converts only maybe 30-40%? of the folate into methylfolate. So a need for supplementation could be greater. Second, the A1298 polymorphism effects the minor methylation pathway and is "corrected" by supplementing TMG/betaine (not to be confused the betaine HCL which is less effective). It plays a greater role in digestion than C677.

You can check with Quest to confirm that the test measures both. After you get the results, you can post or PM me and I'll dig out my Yasko book and send you what she says about each. Or you can watch this 2 hr presentation - which I think both you and DH would enjoy...http://www.autismone...ofiling-part-1-

You might also want to check out Greenblatt's book http://www.jamesgree...blatt-books.htm on zinc deficiencies. A quick and interesting read. I know DD has a zinc issue but the book also discusses genetic polymorphisms that make it difficult for a person to break down long chain fatty acids, making them gluten or casein sensitive (not necessarily intolerant). The result is an AN that comes from discomfort caused by eating. There's a urine test you can do to look for - will be asking our LLMD about it next week. Could help explain why my DD has always had a love/hate relationship with food.

Edited by LLM, 31 March 2012 - 03:05 AM.


#4 colleenrn

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Posted 31 March 2012 - 05:27 AM

My LLMD ordered a lot of tests on my 5 year old. One of them is MTHFR. My niece and nephew were both positive for this, so she thinks my son may be also.
The test she ordered is through Lab Corp. The order says MTHFR Thermolabile Variant, DNA Analysis (83891);routine.

Is this the correct test to order?
TIA!!
Colleen

#5 eamom

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Posted 31 March 2012 - 09:27 AM

Well, I asked the ped to test dd for this ... I gave her the form LMM had posted so she would know what test it was http://www.questdiag...tml&labCode=NEL

Apparently dh looked at what she ordered...and it was ONLY the MTHFR C677t test ... I didn't realize each had to be ordered separately?

I'm sort of confused...was everyone that was getting tested, getting tested for BOTH C677T and A1298C?

Which one are PANDAS kids coming up positive on? Is it the C677T test that is associated with dopamine/serotonin/mental illness or both?


Okay, well we couldn't get in touch with the ped...so dh left msg's and had the lab draw blood anyway. Hopefully they can fix it if it's not the right one. Hopefully they are testing for both. (It had to be fasting for lipids which they are also checking so we didn't want to wait for during the school week.)

THanks LLM...I'll post when we get results.

Edited by EAMom, 31 March 2012 - 09:29 AM.


#6 dut

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Posted 31 March 2012 - 09:54 AM

Yep our test said mthfr dna and looked for both.. also thought I'd mention cos I saw it buried in another recent post (can't remember who ) but i believe they said that either Dr L or Dr M beleive that it's the MTHFR SNP kids that don't show a rise in strep titers.... can anyone confirm this is what either Dr said.. thanks...
DD9 dx'd 2008 1 month after 1st recognised symptom - PITANDS
DS5 dx'd 2009 1 year after first symptoms also PITANDS

#7 mommakath

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Posted 31 March 2012 - 06:33 PM

I will chime in here and say that our doc doesn't follow Yasko totally. There are a few different schools of thought out there on this subject matter and more and more is being figured out. My DS is compound heterozygous meaning he's has one mutation of each 1298 and 677; my DD is heterozygous for 1298. However, both kids tested extremely high levels of folate and B-12. This does not mean they don't need supplementing. It means they are storing it and not using it because their bodies can't - they don't come together and methylate. It is not a measure of methylated folate or B-12; you need to supplement with methylated folate and methylated B-12 if they have this mutation in any form. At least that's our docs opinion and it has been working great for us. DS notices more of a difference than DD but they both can tell a substantial difference. So, I guess this is like most other things here - each doc treats slightly different based on their experiences with it. As long as we find what works, it's all good! :-)
Katherine

#8 llm

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Posted 01 April 2012 - 03:47 AM

Been a few months since I looked at this stuff, but Katherine, help refresh my memory. I recall reading that an MTHFR mutation reduced your ability to methylate folate but did not mean you couldn't methylate it at all. Particularly if you only had one polymorphism and not two. Do you have anything I could read to brush up on this again? We supplemented with methylfolate for 2 months and didn't see much change. Stopped that and instead added tryptophan to boost the SAMe side of the methylation cycle and have seen much bigger improvements. But will re-introduce the methylfolate if its a matter of not having any available without it as opposed to having less of it available.

Thanks!

#9 eamom

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Posted 01 April 2012 - 09:17 AM

Yep our test said mthfr dna and looked for both.. also thought I'd mention cos I saw it buried in another recent post (can't remember who ) but i believe they said that either Dr L or Dr M beleive that it's the MTHFR SNP kids that don't show a rise in strep titers.... can anyone confirm this is what either Dr said.. thanks...


IsI Dr. Latimer testing PANDAS kids for the MTHFR mutation? I remember someone saying that Dr. Murphy had tested their kid. Has this test caught on with the PANDAS docs? Or is it mostly DAN's and Lyme docs that are doing it?

Also, what is SNP?

Edited by EAMom, 01 April 2012 - 09:17 AM.


#10 dut

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Posted 01 April 2012 - 10:16 AM

Hi - not sure about other PANDAS drs but our ped who is our local expert - she has maybe 90 or so PANDAS kids, I believe, from all over our region, is testing this as part of her PANDAS testing in general and is seeing many kids with this single nucleotide polymorphism (SNP) and is also seeing improvement with many of these kids when supplementing for MTHFR.

Our dd8, hasn't been baseline for over 2 years now, running about 95-97% but nor has she had any flare that's taken her below maybe 90% at worst since we've been supplementing for MTHFR and that includes a known exposure to her strep +ve brother. She is compound heterozygour for C677T and A1298C. Her brother is homozygous C677T.

Trouble is you can think 'oh, we've only got one' eg hetero but more reading you do, the more you realise that there are not only other SNPs that effect nmethylation but even more on the MTHFR itself that don't get tested for as a rule but can really impact you're methylation.


Not sure it's the magic bullet but can be a big part of the picture for some. We're still umming and ahhing over doing the full Yasko genetic test for both kids... cost is $500 per child.... would be interesting to see what else may be feeding into this.....
DD9 dx'd 2008 1 month after 1st recognised symptom - PITANDS
DS5 dx'd 2009 1 year after first symptoms also PITANDS

#11 eamom

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Posted 01 April 2012 - 11:28 AM

our ped straightened it out and we should be getting results for both C677T and A1298C, thanks everyone!
I'll post when we get results.

#12 llm

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Posted 01 April 2012 - 11:40 AM

EAMom - from Wiki - A single-nucleotide polymorphism (SNP, pronounced snip) is a DNA sequence variation occurring when a single nucleotide A, T, C or G in the genome differs between members of a biological species or paired chromosomes in an individual. For example, two sequenced DNA fragments from different individuals, AAGCCTA to AAGCTTA, contain a difference in a single nucleotide. In this case we say that there are two alleles: C and T.

So the SNP is the letter that's different in someone who has a mutation (aka polymorphism) of the "norm"

From http://ghr.nlm.nih.gov/gene/MTHFR The most well-studied polymorphism related to the risk of neural tube defects changes a single DNA building block (nucleotide) in the MTHFR gene. Specifically, it replaces the nucleotide cytosine with the nucleotide thymine at position 677 (written as 677C>T). This variant, which is relatively common in many populations worldwide, produces a form of methylenetetrahydrofolate reductase that has reduced activity at higher temperatures (thermolabile). People with the thermolabile form of the enzyme have increased levels of homocysteine in their blood.

I'm not sure it has any more relevance in the Pandas community vs any other community. Estimates for the polymorphism put it at 8-18% of different populations. It's not a "cause". However, it can play a role in the body's reduced ability to make seratonin and/or dopamine because it interferes with efficient methylation. In that respect, it may be one of those predisposing factors to the neuropsych symptoms. It also plays a big role in increasing your risks for heart disease, strokes and macular degeneration.

Like DUT says, there are many SNPs and polymorphisms that effect methylation as well as trans-sulfuration (detox) pathways and any number could be playing a role in our kids' struggles. What I find so fascinating about the whole topic is that is suggests that proper supplementation could build bridges over genetic problems and really reduce symptoms for the long term - on a very individual basis. And rather than being immunosuppressive, supplementation works with the body to move things in a direction it's inclined to move when in good health.

In the same way Katherine and DUT have found good results with methylfolate, I've seen the same sort of goodness with zinc and B6, because that's where DS's biggest genetic issue has been. The whole topic, to me, holds so much promise.

#13 mkur

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Posted 01 April 2012 - 02:12 PM

Yep our test said mthfr dna and looked for both.. also thought I'd mention cos I saw it buried in another recent post (can't remember who ) but i believe they said that either Dr L or Dr M beleive that it's the MTHFR SNP kids that don't show a rise in strep titers.... can anyone confirm this is what either Dr said.. thanks...


I remember reading the same thing. Can someone ask Dr L and Dr M what they know? Can someone ask Dr B and Dr T also? I would be more than happy to test my son if they want more data and think this would help. I probably need to check into this so that I can put this idea to rest.

#14 mommakath

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Posted 02 April 2012 - 06:19 PM

I only have my office notes and a great chart from doc of how chemicals should come together, pair up, make another chemical, split apart and go onto to pair up again. My understanding is that the pairing up of the B12 and Folate doesn't happen so the the chemical reactions further up the chart do not take place. B-12 and Folate are on the bottom tier and start the whole chemical cycle into action. If I can figure out how to scan I will send it your way. She used this chart to walk us through various symptoms you see various places along the chemical pathway if there is a problem. Our symptoms matched up with a problem with the B12 and Folate. The testing confirmed this. Both my kids tested off the chart high levels of folate and B12. This indicates they are not being married for purposes of starting chemical reaction - methylation. Our doc has a great book out on it but not as in depth as my notes from office visit. So, not sure the answer about if it stops it or reduced it - I was under impression it didn't take place in our situation. I tested compound heterozygous as well and feel much better on the supplements - and I don't have all the issues my sweeties do. Perhaps your chemical reaction issue is in a different place on the pathway? Or, perhaps there's more than one way to supplement based upon where your issues are? Hmmm.....don't u wish we would just future it all out? It's a lot to wrap the mind around. Glad we can bounce it back and forth .....

Been a few months since I looked at this stuff, but Katherine, help refresh my memory. I recall reading that an MTHFR mutation reduced your ability to methylate folate but did not mean you couldn't methylate it at all. Particularly if you only had one polymorphism and not two. Do you have anything I could read to brush up on this again? We supplemented with methylfolate for 2 months and didn't see much change. Stopped that and instead added tryptophan to boost the SAMe side of the methylation cycle and have seen much bigger improvements. But will re-introduce the methylfolate if its a matter of not having any available without it as opposed to having less of it available.

Thanks!


Katherine

#15 mommakath

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Posted 02 April 2012 - 06:23 PM

Yes...well said LLM! And, Dr. B does test but may need to ask for it. Knowledgeable but not sure to what degree and if he supplements. Know he will tell you about special diets.

EAMom - from Wiki - A single-nucleotide polymorphism (SNP, pronounced snip) is a DNA sequence variation occurring when a single nucleotide A, T, C or G in the genome differs between members of a biological species or paired chromosomes in an individual. For example, two sequenced DNA fragments from different individuals, AAGCCTA to AAGCTTA, contain a difference in a single nucleotide. In this case we say that there are two alleles: C and T.

So the SNP is the letter that's different in someone who has a mutation (aka polymorphism) of the "norm"

From http://ghr.nlm.nih.gov/gene/MTHFR The most well-studied polymorphism related to the risk of neural tube defects changes a single DNA building block (nucleotide) in the MTHFR gene. Specifically, it replaces the nucleotide cytosine with the nucleotide thymine at position 677 (written as 677C>T). This variant, which is relatively common in many populations worldwide, produces a form of methylenetetrahydrofolate reductase that has reduced activity at higher temperatures (thermolabile). People with the thermolabile form of the enzyme have increased levels of homocysteine in their blood.

I'm not sure it has any more relevance in the Pandas community vs any other community. Estimates for the polymorphism put it at 8-18% of different populations. It's not a "cause". However, it can play a role in the body's reduced ability to make seratonin and/or dopamine because it interferes with efficient methylation. In that respect, it may be one of those predisposing factors to the neuropsych symptoms. It also plays a big role in increasing your risks for heart disease, strokes and macular degeneration.

Like DUT says, there are many SNPs and polymorphisms that effect methylation as well as trans-sulfuration (detox) pathways and any number could be playing a role in our kids' struggles. What I find so fascinating about the whole topic is that is suggests that proper supplementation could build bridges over genetic problems and really reduce symptoms for the long term - on a very individual basis. And rather than being immunosuppressive, supplementation works with the body to move things in a direction it's inclined to move when in good health.

In the same way Katherine and DUT have found good results with methylfolate, I've seen the same sort of goodness with zinc and B6, because that's where DS's biggest genetic issue has been. The whole topic, to me, holds so much promise.


Katherine




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