Genetic Mutations?

Since Dr. Hughes is on the cutting edge of this disease, and since some of you have seen him, I am wondering if he routinely requests genetic testing after a diagnosis of APS is made.

I ask because there is something called an MTHFR mutation that can frequently be present in people with APS. I am not sure of the relationship between its presence and the presence of the antibodies themselves. HOWEVER, and this is a big HOWEVER, the MTHFR mutation can cause a whole host of problems. And based on the amount of anecdotes I am seeing here about fatigue and rashes and cognitive issues and balance, etc, I am wondering whether a lot of us with APS aren't suffering from the effects of the MTHFR mutation.

To quickly explain, MTHFR assists in the process of making B-vitamins bioavailable. If it is mutated, your body cannot utilize the B-vitamins you ingest. Therefore, simply taking a Folic Acid tablet isn't enough. You need the bioactive form.

Additionally, the mutation negatively impacts your body's ability to produce important antioxidants, such as Glutathione. Without these, your body cannot clean up byproducts of oxidative stress (free radicals) and also cannot chelate and excrete toxins we are exposed to environmentally, especially heavy metals.

Heavy metal toxicity does cause cognitive problems and aching joints and depression and a host of other problems.

Here are two videos that describe the biochemistry of what I have just explained.

6 Replies

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  • Thank you for sharing. I was recently diagnosed so everything is new to me. I'll watch the videos tonight. I have vitamin b deficiency. Also my sister has it badly & even if she takes vitimine b it doesn't help. Thanks again!

  • I have APS and have been tested and am homozygous MTHFR and I have raised homocysteine levels so I am now on vitamin B12 50mcg and folic acid 5mg daily. I'm not certain if the B12 and folic acid have corrected my homocysteine levels though - prompt for me to check at my next appointment at St Thomas' next month. Thanks for sharing.

  • Be careful. My understanding is that if you are homozygous, than your ability to utilize the folic acid you take through diet and regular supplementation is VERY low -- something like only 7%. This means that in order to correct the problem, you need to be taking the ACTIVE form of folic acid. Discuss this with your doctor.

    Additionally, and maybe more importantly, you will have problem detoxifying naturally. This means that over time, you could be looking at a slow and steady build up of heavy metals in your system. Therefore, supplementing with Glutathione is important. But note that Glutathione is poorly absorbed by the gut. I myself have been advised to find a way to get Glutathione either intravenous or through suppository. I would imagine that there might be a sub-lingual option as well. Not sure.

    Good luck.

  • Many thanks for the insight. Do you have any references for published medical journals for this information (especially the glutathione)? If so I would really appreciate the links as I have found that presenting the evidence base to my Drs really helps.

    Thanks again :)

  • I have a homozygous factor5 mutation. By itself it is not part of the APS criteria but has a huge impact with APS becasue it is part of the clotting cascade, I believe MTHFR falls into this catagory as well

    lucky1

  • What is the test for MTHFR? I wonder If I've been tested already.

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