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» LymeNet Flash » Questions and Discussion » Medical Questions » MTHFR question

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Author Topic: MTHFR question
tickled1
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My LLMD told me today that I have 2 "C copies". does anyone know what that means. Which one is considered C? C677T or A1298C?
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Catgirl
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Tickled, there's another link titled "Any MTHFR updates" that covers everything:

http://flash.lymenet.org/scripts/ultimatebb.cgi?ubb=get_topic;f=1;t=116641;p=0

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--Keep an open mind about everything. Also, remember to visit ACTIVISM (we can change things together).

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Razzle
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A1290C would be the "C" to which he is referring... The mutated item is the second of the two letters around the number when referencing genes...

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Lyme IgM IGeneX Pos. 18+++, 23-25+, 30++, 31+, 34++, 39 IND, 83-93 IND; IgG IGeneX Neg. 30+, 39 IND; Mayo/CDC Pos. IgM 23+, 39+; IgG Mayo/CDC Neg. band 41+; Bart. (clinical dx; Fry Labs neg. for all coinfections), sx >30 yrs.

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Marnie
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Razzle...I understand 2 copies of the other one = difficulty processing folic acid to its useful form...

What does having 2 copies of A1290C impact? I can't find it on the internet.

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tickled1
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Thank you for the link. I've quickly skimmed the info and will go back and read it in more detail when I am able to focus a little better. Very tired today.

The one thing that really stood out when I skimmed though is the mention of bipolar disorder. My father is severely bipolar.

Also, I am pretty down after reading that having 2 copies of the A1298C is really bad. All of this explains a lot though.

The amount of info and the complexity of it is so overwhelming though that I wonder if I can truly ever really get a handle on this. I am incredibly overwhelmed at the moment.

After all the years and money I've spent on chasing Lyme, the funds just aren't available to fully go down the MTHFR and co. road.

I hope I can get a better understanding of all this so I can make some positive changes but I can't wrap my mind around it right now.

BTW, does anyone know why people w/MTHFR need to avoid gluten?

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tickled1
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Whoa, I just came accross this article:

http://www.ncbi.nlm.nih.gov/pubmed/15952099


What really stood out to me was this:

"Gluten-free diet was able to normalize folate, vitamin B 12 , and homocysteine levels"

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tickled1
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Is it A1290C or A1298C?
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Marnie
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"Hyperhomocysteinemia is frequent in newly diagnosed GSE(Me...gluten sensitivity).

Vitamin deficiencies caused by malabsorption are the most important determinants of this condition.

Hyperhomocysteinemia might contribute to the occurrence of common complications of undiagnosed GSE."

PMID: 15952099

Which came first...chicken or egg? Vitamins not absorbed OR vitamins not able to be converted to their useful form to lower homocysteine?

B6 as PLP/P5P can help lower homocysteine. B6 and Mg go hand in hand.

Gluten is a combination of PROTEINS found in grains.

Product to help break down gluten:

http://www.pureencapsulations.com/itemdy00.asp?T1=GDD6

Gluten intolerance inhibits the absorption of Mg.

and

"Magnesium Deficiency Reduces Vitamin D Effectiveness".

Sorry...couldn't post link here...just "Google" the above to read.

Since Mg levels are very low in lyme (plummet at the outset and likely spirals down) this is disasterous because...

Mg is needed to make all of our enzymes (somewhere along the route) and is needed to make a "healthy" antibody to Bb's OspB (along with Ca).

Okay...ATP drives Mg back into the cell where it combines with ATP as Mg-ATP. Problem is...there is far too little ATP being made in the cells Bb is effecting primarily because Bb is stealing NADH which we make and is in our mitochondria -> mitochondrial (powerhouses) dysfunction.

Read about Mg here (start with B - Necessary for oxidative phosphorylation):

http://mdschoice.com/articles/vitamin-mineral_magnesium.php

[ 05-10-2012, 10:03 AM: Message edited by: Marnie ]

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Marnie
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Subjects homozygous (TT) (i.e., 2 copies of the same) for the C677T mutation had significantly

greater plasma total homocysteine

concentrations than subjects without the mutation (CC).

Homozygotes (CC) for the A1298C mutation did not have elevated plasma total homocysteine concentrations.

http://jn.nutrition.org/content/129/9/1656.full

The area which the A1298C MTHFR mutation works appears to

disrupt function in the BH4 cycle.

http://mthfr.net/mthfr-a1298c-mutation-some-information-on-a1298c-mthfr-mutations/2011/11/30/

Review time:

People with MTHFR problems - those that can't process folic acid (B9)- have a limited availability to

make an enzyme called BH4.

Hsp90 (heat shock protein 90) is upregulated during early onset and later in lyme.

Hsp90 appears to be trying to upregulate BH4 (which is beneficial to make neurotransmitters, etc.), but with the MTHFR problem, those persons have a limited access.

Whereas A1298C MTHFR disrupts the function of BH4.

Soooo...one would assume...2 copies of C677T along with A1298C would be really disasterous re: BH4. Limited supply and disrupting function of BH4.

Review of BH4:

Tetrahydrobiopterin (BH4, THB, trade name Kuvan) or sapropterin (INN) is a naturally occurring essential cofactor of the three aromatic amino acid hydroxylase enzymes,

used in the degradation of amino acid phenylalanine

and in the biosynthesis of the neurotransmitters

serotonin (5-hydroxytryptamine, 5-HT), melatonin, dopamine, norepinephrine (noradrenaline), epinephrine (adrenaline), and is a cofactor for the production of nitric oxide (NO) by the nitric oxide synthases.

Wikipedia

AND...adrenaline up...uses up any available BH4 (enzyme)?

Which maybe why lowering adrenaline is so important.

Adrenaline = epinephrine = "fight or flight".

Adrenaline leads to:

Increased blood glucose

and fatty acids,

providing substrates for energy production within cells throughout the body.

Which likely makes Bb one happy camper.

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tickled1
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Ok, now I am VERY confused! I just found this that says the "C" copy is C677T. Does anyone know for sure which one is consider the "C" copy?

C677T or A1298C

Can someone please tell me with 100% certainty if they know. Thanks!

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FuzzySlippers
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tickled,

I think your LLMD's remarks sound ambiguous. He could have meant that you have one copy of each: One copy of the C677T and one copy of the A1298C. Or that you have a double mutation of either the C677T or the A1298C.


It's hard to know what he meant without seeing the lab results. Maybe you should contact his office to get a copy of the lab results so you'll know for sure?

[ 05-11-2012, 07:03 PM: Message edited by: FuzzySlippers ]

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tickled1
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I plan on contacting his office Monday. In the meantime, the suspense is killing me. He said I have 2 "C copies". Just curious which one is commonly referred to as the "C" copy.
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tickled1
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Sorry, I meant to include this link above:

http://www.fertilethoughts.com/forums/general-pregnancy-board/706214-successful-pregnancy-mthfr-please-share.html

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tickled1
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I've been scouring the web and finally determined that two C copies is "Homozygous for C677T". The worst, or second worst (depending on which website) you can possibly have.
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Marnie
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Okay...

The official name of this gene is methylenetetrahydrofolate reductase (NAD(P)H). - NADPH dependent.

MTHFR is NADPH dependent!

Whoa! Bb impacts NADPH...see my post re: Bb as a photosynthetic bacteria.

NADH (sublinguall) + PLP/P5P (sublingual) + CoQ10?

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tickled1
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Interesting article manybites. I'd love to hear from those on here that found methylation issues to be their last big hurdle and how it was addressed and if addressing helped them turn the corner.
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Marnie
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Those with a MTHFR problem might want to consider these FIVE nutrients:

Niacin (vitamin B3) along with 5-MTHF - since the conversion of folic acid =B9 to its active form is problematic (Deplin is the Rx, FoloPro is OTC by Metagenics) + B12 - sublingual if missing the intrinsic factor + TMG (or simply eat beets), and B6 - sublingual as PLP/P5P if you lack the ability to convert B6.

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tickled1
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Dr. Lynch on MTHFR.net mentions that KPU can also exist with MTHFR and I myself do in fact have both.

Problem is, I had to stop CORE for KPU b/c my kidneys started hurting and LLMD thought I was detoxing too fast and body couldn't handle it.

Right now he says IV glutathione and to try coffee enemas and liver flushes and then later we'll move on to other stuff. Says my body can't handle much more than that right now, just too toxic. I have tons of test results that show just how incedibly toxic I am right now.

Problem is, I'm scared to even do the coffee enemas and liver flushes b/c I react so badly to everything.

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tickled1
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BTW, along with the MTHFR and KPU, my HLA-DR tests showed I have difficulty detoxing Lyme or Mold toxins. I'm just a toxic mess. Really bad genetics I guess.

Just reread what manybites posted above about Dr. K saying treat KPU and glutathione will be fixed. I guess I need to do it the other way around since I'm still too toxic to tolerate CORE for KPU but do get results from glutathione.

Maybe if I bring down my toxic load with glutathione infusions I will then be able to tolerate CORE.

And, now I'm confused again as to which one is considered C copy after rereading Marnie's post above. Have a call into LLMD's office and am waiting for reply.

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Marnie
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Double copies of C677T = limited ability to make BH4 (an enzyme).

Double copies of A1298C = impacts BH4 function.

Hsp90 tries hard to upregulate BH4 early on and later in lyme.

BH4 is an enzyme that is used to make serotonin, dopamine, thyroid hormones, melanin and to

detox ammonia.

ALL toxins are hard to rid because Bb really seriously impacts the liver negatively, IMO.

Edited...made a typo in first sentence.

[ 05-15-2012, 11:52 AM: Message edited by: Marnie ]

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tickled1
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But still don't know which one, C677T or A1298C, is considered the "C copy".
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Catgirl
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Tickled, I think it's the one with the C in front of it: C677T.

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tickled1
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Just heard from my LLMD. I have 2 copies of C677T.
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canefan17
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Hi tickled (your mailbox is full)

Which glutathione do you take?

I'm in same boat as you. Severely mineral deficiient and low glutathione. KPU (The Core) gives me inflammation so I can't take.

What about NAC? Supposed to be great precursor to glutathione.


I start liposomal glutathione soon?
Does liposomal just make you feel better by neutralizing toxins or can it dump MORE toxins in the system and make us worse?

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tickled1
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I will reply in more detail later and clear mailbox then as well as I'm on my way out the door but I do IV glutathione.
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Marnie
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2 copies of C677T means you can't process folic acid to it's useful form which limits your ability to make an enzyme called BH4 which is really important!

Deplin, (Rx) or Metagenics FoloPro (OTC) is the active form.

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tickled1
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Thanks Marnie! My LLMD is starting me off on B Supreme by Designs for Health. Dont' know if that is what he plans to keep me on or not but it has some form of active folate in it.

Back in 2009 when I was seeing another Dr. I had high folate and B12 come back on some testing and they didn't make the connection. It's starting to make sense now.

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sparkle7
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It's tricky with all of this. It's sill pretty experimental.

I believe that Dr. K says to do the KPU & the methylation problems will be corrected. I was afraid to do the KPU on my own since people said it was extreme. There are alot of people who have done the Rich VanK Simplified Protocol without a doctor - so, I tried that first.

I felt like I was detoxing too much so I slowed it down. I think I may be detoxing metals - so, then, I had to deal with dental stuff...

There's alot of controvercy about chelation, too. All of this can drive a person nuts. Some theories say not to take chlorella or glutathione. I don't know...

If you go for the 23andme test - you better read the privacy notice! They have the rights to your genetic material.

I think Marnie posted about synthetic folate & how that can be a problem. It's all pretty complicated. Sometimes, I just feel like forgetting about all of this & getting an ice cream.

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tickled1
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Cleaned out mailbox....

I know what you mean sparkle. I keep screwing up on diet b/c I am just so overwhelmed and need to enjoy some aspect of my life.

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