Can't find anything really. As if it is NO big deal. The other one is.
The C one is closely related to cardiovascular probs and seems to be the only one getting the info.
Quote:
As a general rule, the A1298C mutation is associated with a group of disorders that I refer to as Neuro-Immune Syndromes—conditions affecting both the nervous and immune systems. These include autism, alzheimer’s, Parkinson’s disease, Multiple sclerosis, Rhematoid arthritis, lupus, and many others. Traditional medicine is currently referring to all of those disorders by separate names (mostly for insurance and billing purposes).
However, each of the aforementioned syndromes/disorders have a great deal in common: chronic, systemic inflammation, a high viral load, significant heavy metal and environmental toxicity, immune abnormalities (immune deficiency in some aspects of the immune system and immune over-activity in other aspects), mood disturbances, and hormonal imbalances. And(again, as a general rule), the C677T mutation is more closely related to cardiovascular disorders.
This is frustrating. I have a daughter that was recently found to have this mutation. Did it just kick up? Is it prevalent with Hashimoto's and gluten issues? Should I be tested? Her father?
The only thing her doc is doing is giving her a special B12?
He is probably prescribing methylcobalamin or hydroxy B12, which is more efficient in clearing a buidup of high levels of inactive B12 that can occur when you have mutations. Having only one A1298C defect is a lot less of a problem than having one from each parent. Taking a 5 MTHF supplement can also help with methylation (instead of folic acid).
The MTFHR is just one part of the Methylation Cycle and and is interdependant with all the other cycles so trying to medicate just one part of the methylation cycle can cause problems and cause parts of the cycle to slow down or speed up. This can cause more problems than when you started. Getting all the parts of the cycle working optimally is a specialist job. This is a schematic of the Methylation Cycle. The A1298C mutation is found about 40% down the page.
Getting all the parts of the cycle working optimally is a specialist job
I agree. And thank you for the information. I get that when there are both mutations. It is bad. And that seems to be the only info I can glean off the webs. OK. IT IS BAD, but is the other no biggie? From what I read, it can be just as harmful.
When you first find about your methylation defects ( or someone close),there is a tendency to fear they are going to suffer from all the problems listed.
This is not so, methylation defects only predispose us to some of the problems mentioned. They are not the same as a genetic defects that cause Huntingdon's or Sickle cell anemia for instance, which cannot be avoided. By attempting to correct methylation, the odds of suffering from these defects can be very much downgraded.
You didnt mention whether your daughter had a full MTHFR genetic test or just the A1298 snp test. If she had Methylfolate tested and it was adequate then she will not need the 5MTH supplement I mentioned.
If she had the full MTHFR then this is a more simpler and basic explanation which you can study, as well as some basic DIY actions you can take with a A1298 mutation, like cleaning up the gut and improving gut flora.
The A1298 usually affects the neurotransmitters mostly, and causes lower levels of something called Tetrahydrobiopterin(BH4). Eating a lot of animal protein can deplete this, as BH4 is used up getting rid of ammonia generated by animal protein. Lowering meat consumption and increasing vegetables can help.
Taking a 1,000mg time released Vitamin C supplement can also help to regenerate BH4, which also helps to increase nitric oxide and protect those with the A1298 defect against heart disease and other circulation diseases.
A word of caution about using supplements for methylation. Sometimes opening up pathways that have been genetically blocked for years can cause large detox effects. Low and slow is the best and only take one supplement at a time and wait a few days to monitor the effects.
The blood test was along with all the others chem profile, lipids, thyroid, etc.
Just says positive for a1298c heterzygous...sorry, do not have results in front of me. Negative for C677T. And basically that is all from the lab.
I am reading way too much into this. Or, am I?
I am not sure if she should have the 23and me done - find out if there is anything else like CBS and SUOX and others? For those should be, at least the CBS, tended to before the correction of the methyl vitamins. Given PERQUE, looks like a multi? And that's pretty much it. NO further labs, supps, dietary add ons.
We are def cleaning up diets - no more organic wine, no more.
Her symptoms are chronic fatigue. She is dragging. Her thyroids are good - even with the Hashimoto's. But she claims to feel as if she has been "glutened" even tho she is gluten free.
Can't get anywhere with just basic info. Seems to only address more than one mutations. It is more confusing than explaining T3 and T4 levels, I think
I am looking for that info that claims a1298c single - heterozygous -- is treated with a change in b vitamins only. fingers crossed.
The blood test was along with all the others chem profile, lipids, thyroid, etc.
Just says positive for a1298c heterzygous...sorry, do not have results in front of me. Negative for C677T. And basically that is all from the lab.
I am reading way too much into this. Or, am I?
To be honest ,yes you are, but you wouldnt be a good Mother if you werent concerned about your daughters welfare.
As I mentioned before, methylation problems especially MTHFR, are quite widespread and problems mainly occur when there is a double mutation(one from each parent) whether 677 or 1298.
A single 1298 mostly means she is not converting her vitamin B12 intake to Methyl B12, hence the methyl B12 supplement as mentioned previously is required.
This might explain more clearly about single 1298 mutations and put your mind at rest.
I am not sure if she should have the 23and me done - find out if there is anything else like CBS and SUOX and others? For those should be, at least the CBS, tended to before the correction of the methyl vitamins. Given PERQUE, looks like a multi? And that's pretty much it. NO further labs, supps, dietary add ons.
Going for 23andme could end up paying a lot of money out, not just the testing its the number of supplements over a long period, as well as the number of retests required and paying the health practitioner.
Quote:
We are def cleaning up diets - no more organic wine, no more.
Her symptoms are chronic fatigue. She is dragging. Her thyroids are good - even with the Hashimoto's. But she claims to feel as if she has been "glutened" even tho she is gluten free.
Can't get anywhere with just basic info. Seems to only address more than one mutations. It is more confusing than explaining T3 and T4 levels, I think
If she has been short of methyl(active) B12 this can cause a lot of symptoms including fatigue. Google low B12 symptoms.
Quote:
I am looking for that info that claims a1298c single - heterozygous -- is treated with a change in b vitamins only. fingers crossed.
If you check the "Seeking Health " PDF link I posted, on page 36 are the B12 vits used to treat various 1298 defects. Some doctors also include L-5 methyl or a multi. The B12 is either a methyl B12 or a Perque Hydroxcobalamin B12.
BTW, How old is your daughter and how long has she had these fatigue symptoms?
She is an adult - 28 yo and has been suffering off and on since thyroid surgery due to nodules. Then there is some EpsteinBarr that I have read she will always have and it may flare up from time to time.
Has she ever had her adrenal glands tested? Autoimmune disease can also affect them at the same time as the thyroid. Even with adequate thyroid function if the adrenals are weak the thyroid will only be able to operate at reduced capacity.
He is probably prescribing methylcobalamin or hydroxy B12, which is more efficient in clearing a buidup of high levels of inactive B12 that can occur when you have mutations. Having only one A1298C defect is a lot less of a problem than having one from each parent. Taking a 5 MTHF supplement can also help with methylation (instead of folic acid).
.
Hopefully he is not using the cheaper cyanocobalamin, which is a synthetic form that has cyanide in it, just like the name sounds.
I'm assuming when you say 'Folic Acid', you are reffering to the supplement methyl folate, which is the only form of 'folic acid' one should take.
__________________ "We know that no one ever seizes power with the intention of relinquishing it. Power is not a means; it is an end. One does not establish a dictatorship in order to safeguard a revolution; one makes the revolution in order to establish the dictatorship. The object of persecution is persecution. The object of torture is torture. The object of power is power. Now you begin to understand me." George Orwell
One Copy of the MTHFR mutation *heterozygous
I get that when there are both mutations. It is bad. And that seems to be the only info I can glean off the webs. OK. IT IS BAD, but is the other no biggie? From what I read, it can be just as harmful. 
Linear Mode
