23andme gene mutation report

Had my skype appt with Dr C last night regarding my mutation report from 23andme results. These are the main bits that he felt needed attending to

CYP1a1, 1A2 --Phase 1 detoxification in the liver, which impair clearance of Estrogens, Xenobiotics (foreign chemical substance-like metals)

GPX1, GSTP1--Decreased ability to use glutathione to neutralize toxins

COMT-Decreased Cathechol-O-methyltransferase activity-

this enzyme is used to break down catecholamines in a normal, heatlhy fashion. Cathecholamines are adrenali, norepinephrine and dopamine. If you don't clear this normally, they PERSIST and exert their stimulatory effects for longer than is normal

Decreased COMT activity also impairs Phase II detoxification in the liver. Phase II is where toxins etc are attached to things like Glutathione, Suflate, Glycine or Glucuronic Acid.

COMT SNP's can be worsened by excess methyl donors

GAD1- Decreased ability to make GABA, an inhibitory/calming neurotransmitter. There are 3 main places where GABA has high expression: Basal Ganglia, Cerebellum and Pancreas. People with low GABA are really prone to anxiety, worry and an overly high firing Brain. But can also show problems with hyperactivity, balance, coordination, car sickness

NRC31--Abnormal receptor for Cortisol. This can lead to chronic fatigue, high cortisol and side effects from high cortisol (decreased memory, trouble going to sleep, insulin resistance)

VDR-Abnormal receptor for Vitamin D - you could have normal levels, but not benefit form those normal levels. In addition, these SNPs can be made worse by excess Methyl donors.

BCMO1-Decreased levels of Vitamin A. Vitamin A is very important for the health of epithelial tissues (skin, GI tract, Respiratory tract); also for retinal and macula health in the eye; normal function of thyroid hormone receptor.

SOD2, SOD3--Decreased levels of Superoxide Dismutase 2, which protects your mitochondria (energy power plants in every cell) from being damaged

You are heterozygous C/A for the MTHFR A1298C SNP – which can mildly elevate homocysteine


Perque Activated B12 Guard

Apex Ultra D 5000

N-Acetyl Cysteine


Pre-formed Vitamin A such as Klaire Micellized Vitamin A

Biotics Mn-zyme (manganese)

Apex Gabacore

The NRC31 gene regarding my cortisol explains a lot. I have an abnormal receptor hence my anxiety from my high levels. He didn't quite explain how to correct my levels apart from a low carb diet.

My GAD1 gene also confirms decreased inability to make GABA which also explains my poor mental health. My glutamate is high which is the stimulating one and my GABA low which is the calm one

My half hr appt was over in a flash and not sure what to make of him to be honest, it was all so rushed; no time for me to ask any questions, just here are the results and this is what I want you to take. It's only the second skype appt I have had with him since June although he will answer all my emails to him. He obviously didn't review my case file properly before our skype because he asked me to mail him as to what supplements and meds I am taking even though he already has that info. He also has copies of all my test results on everything. I know he is busy but I am not sure whether to find someone else who can give me the time I think I deserve. Don't get me wrong he is very knowledgeable but just packing me off with more supplements instead of properly talking to me about symptoms and stuff, I don't think is the way to go.

Not sure what to do now :( Just when I thought I was going to get some proper help I am not so sure I did. I just feel like a number rather than a patient

40 Replies

  • Surely, you're already on a low carb diet, aren't you?

    I don't know where you're ever going to find someone who has more time. If I were you, I would go with what he says and see how it works out. If it doesn't work out, then would be the time to start thinking of finding someone else.

    You certainly do have high glutamate! You're always rushing to get ahead of yourself, instead of giving things time to work. Slow down!!! lol :)

  • greygoose

    Yup I am in a terrible state this morning, in fear and flight mode again as I usually am this time of day, can't seem to calm myself down even after a Diazepam. He told me to up my carbs recently because of my continuing weight loss (which is really worrying me now), but then again that was before he saw the report. My bones ache as well. Just going downhill more and more each day.

    Am waiting for him to mail me back, hopefully today, because he didn't say what doses to take in anything, just gave me the list to look up to see if I can get what he wants me to have over here.

  • But, then again, you did say that this analysis was just a guide, and not to be taken as gospel. So, maybe you do need to eat more carbs, to stop the weight-loss, and that that bit of the report is wrong. The people that do the analysis don't know you, nor all the problems you have, so they can't possibly be right all the time.

    And, given that you've been on a low carb diet, and it hasn't helped, maybe it's time to try eating more carbs. There is a school of thought that says you need carbs for thyroid health/conversion. Why not give it a try?

  • greygoose

    On Kriss Kresser's site it says

    Hypothyroidism and HPA Axis Dysregulation (Adrenal Fatigue)

    Hypothyroidism is one of the most commonly cited medical reasons for needing to eat a moderate carb diet. The main reason why carbs affect thyroid function so directly is because insulin is needed for the conversion of the inactive T4 hormone into the active T3 hormone, and insulin is generally quite low on very low carbohydrate diets.

    So if you’ve suddenly started developing hypothyroid symptoms on your low carb diet, it’s a pretty good sign that you’d be better off upping the carbs (and getting your thyroid tested if you haven’t already!) For more about how low carb dieting affects your thyroid, listen to this great interview with Chris by Jimmy Moore.

    HPA axis dysregulation, also known as adrenal fatigue, is another condition where a moderate carb intake is important for general health. Kelsey and I talked about adrenal fatigue on our first Ask the RD podcast, so listen to it if you’re unfamiliar with this condition. The main hormone that gets dysregulated in adrenal fatigue is cortisol, and cortisol has been shown to increase on a low carb diet. This means that a low carb diet is a potential adrenal stressor in susceptible individuals. Combine that with a stressful job, inadequate sleep, and overexercise, and you’ve got yourself a recipe for adrenal burnout.

    So if you have adrenal fatigue, or if your current lifestyle is already high stress in a few different areas, you may want to increase your carb intake until you can get those additional stressors under control, as you may drive yourself into adrenal fatigue by having a chronically elevated cortisol output. Lara Briden has written a great article on the benefits of whole food carbohydrates in lowering cortisol and raising GABA, a calming hormone that is often low in adrenal fatigue patients.

    If you’re experiencing symptoms of hypothyroidism or adrenal fatigue, you may be worsening them with a well-intentioned low carb Paleo diet. I recommend working with someone to help you figure out if your diet is indeed making these symptoms worse, and how to change what you eat to better support your thyroid and adrenal health.

    So he is saying I need to up my carbs especially for my high cortisol and my FD is saying lower them

  • Yes, well, you often get a divergence of opinions like that. So, what you have to do, is try and find out what works for you.

    Low carb obviously hasn't worked, has it. So, now try increasing them, and see what happens.

    Is Dr C your FD? You said he didn't know very much about hormones. And deregulated hormones are your main problem.

  • greygoose

    Just read another conflicting report. ffs what is one supposed to do. Think I am just gonna go back and eat what I want.

    Yes Dr C is my FD. He does know lots about hormones hon but he can't comment on my meds because he isn't that sort of Dr

  • You know what? I think you should go back to eating what you want! That's what I do. I've given all sorts of diets a chance in the past - low carb, no sugar, gluten-free, dairy-free, etc - and nothing makes me feel as good as just eating what I fancy!

    I'm not a big eater, don't enjoy eating, but eating something I don't want just doesn't help. I have to say, I don't understand people that can eat anything - and everything - how can you not be fussy? lol Some things taste awful, like green beans! And some things look awful, like tripe. And some things smell awful... I'm very fussy about what I put in my mouth. So, if there is something I do fancy - and that isn't very often - I damn well eat it! lol

    I am convinced the body knows what it needs. Trust your body, listen to your body. And, for all those that come back with something like, 'yes, I fancy cream cakes but they're not good for you!' I will say, the occasional cream cake isn't going to do any harm. But who wants to live on cream cakes? I certainly don't, and my body would soon complain if I tried. So, that doesn't wash with me.

    I think if something doesn't physically disagree with you, there's no reason not to eat it - and that goes for gluten, too. If you stay off gluten for three months or more, and go back on to eating it, and feel bad, then no, you shouldn't be eating gluten. But, if you don't feel any different, then why bother with the hassle of gluten-free?

    I'm not advocating over-eating, but you haven't been eating enough, and you know it. Perhaps it's because you've been denying yourself the things you love. Maybe if you just eat what you fancy, you'll be able to eat enough. You know what they say : a little of what you fancy does you good! :)

  • greygoose

    feel like I am gonna pass out at the moment. just had to pop another anxiety med

  • greygoose

    temp has just gone down to 35.5 and pulse in 90's

  • When did you last eat?

    When did you last take your T3?

  • greygoose

    managed a bit of sardines in oil and a couple of oatcakes about 15mins ago. Had some t3 last night as usual. Haven't had my day dose yet

  • Well, in 1 hour 45 mins time, why not take your T3 and see if that helps.

  • Greygoose

    Never makes any difference on how i feel hun

  • Greygoose

    Sat in chair with hot water bottle shivvering and shaking with anxiety. I cant do this anymore

  • Yes, you can. You know what's causing it, now. You have a list of things you need to take to help. Have you been looking for them?

    And, most importantly, you know to eat more carbs. In fact, eat more!

    You're so close to solving the problem now, you can't just give up. Have something more to eat. You don't get enough protein and fat! Man can't live by fruit and veg alone.

    Hang on in there, you're going to win, I know you are! xxx

  • greygoose

    I am not close in solving anything hon. Have been watching a few of his vids on youtube and his success stories but I am far from that and I don't believe I am going to get better because I am getting worse if anything.

    Am still waiting for Dr C to mail me back so I get the supps. Wanted to order them today so I get them for the weekend. I can't just order them because I don't know what dose he wants me on.

    Can't eat anything at the moment, feel too sick, weak and ill. Just had my t3 but that never makes me feel any better

  • greygoose

    He has just come back to me about one email.

    Q. You mentioned a low carb diet as regards my glucocorticoid receptors. Don't understand that bit which you will need to explain to me again.

    A. Don't eat a high carb diet because you will make more cortisol from it...your Cortisol receptors are abnormal and a high carb diet will compound that.

    also told me if I wanted to take any B Vits "NOT methylated B Vitamins, but you can take B vitamins if you want"

  • Well, that's as clear as mud!

    Anyway, no-one is talking about a high carb diet, just more carbs than you're eating at the moment.

    "So if you have adrenal fatigue, or if your current lifestyle is already high stress in a few different areas, you may want to increase your carb intake until you can get those additional stressors under control, as you may drive yourself into adrenal fatigue by having a chronically elevated cortisol output. Lara Briden has written a great article on the benefits of whole food carbohydrates in lowering cortisol and raising GABA, a calming hormone that is often low in adrenal fatigue patients."

    As I said before, you've tried the low carb diet, it didn't help. Now try increasing carbs a little, and see what that does.

    And please, please, stop being so negative. I know you are ill, but a positive attitude helps much more than a negative one. If you keep saying that you are not going to get better, it will be come a self-fulfilling prophesy. Try the old mantra : Every day, in every way, I'm getting better and better... Say it ten times every morning until you believe it! :)

  • how confusing I s that..stress raises cortisol, high carbs can cause insulin resistance and weight gain? whos right?

  • who knows

  • Nobody can be right for everybody. You just have to find what works for you.

  • There's high carbs (esp fructose) and there's moderate carbs. Just eat a nice dollop of mashed potato with your dinner (with butter and black pepper) or rice with your evening curry.

  • Jefner,

    Why don't you book a 60-minute consultation to go over the things you felt rushed on.

  • Clutter

    If I booked a 60min consult it would cost $500

  • Jefner,

    If you consult someone else it will cost you too.

  • Treating SNPs is dangerous as you don;'t know what is expressing, you need to find a functional medicine doctor who is matching this to something like a Optimal Nutritional Evaluation and a CDSA ... I'm also in this territory but it's a complete head scramble. Just because you have a mutation doesn't mean it's 'on' and expressing.

    I have previously got myself into a real mess following this kind of advice, you need to look at bio markers in TANDEM with your genetic information, this is epigentics and there a few docs around.

    And certainly don't chuck that list of supplements at yourself all in one go, the order in which you do these things are important.

  • Girlscout2

    I am working with a Functional Medicine Dr who uses those reports all the time

    How do you mean you got yourself into a mess following advice (from whom)?

    "you need to look at bio markers in TANDEM with your genetic information"....don't understand that bit.

    I worked with a nutritionist a few months ago who did a full metabolic nutrient test before issuing me with a diet plan and the results pretty much tie in with what I am experiencing and also my recent gene results

  • Great, so he's matched your Nutreval to your 23 and Me report (which I'm assuming he's run through an app like that from Stirling)?

    What I mean by in TANDEM is just because you have a genetic mutation doesn't mean it's expressing - it might be 'on' or 'off' so good docs now who are working in nutrigenomics are matching up the data from blood and urine tests etc, with genetic reports.

    And 'got in a mess' - most standard advice re MTHFR based on my reports, made me feel worse ... this is because it's hugely complicated. By all logic, B12, methylfolate and all that jazz should have made me feel better, but it made me feel hugely worse ..

    Also mitochondrial dysfunction might mean you cannot tolerate certain things YET, ditto if one pathway is blocked, even putting in the RIGHT supplements won't help as you have to address things in the correct order - as you can upregulate one process and then the body can't cope ... there is a huge amount of snakeoil in this area, you need to be really careful.

    I only commented because you seem to feel (from your post) that the advice you were given made you feel 'like a number' and you are an INDIVIDUAL - personally, I'd trust your instincts.

    Is this doctor issuing you with a written report?


  • Girlscout2

    I did send him the report but I am sending it to him again and asking him to look over both and make sure then tie in although it was done back in April. At the end of the day I don't know what he looks at that I have sent him.

    One thing the nutrtitionist's report did pick up is that I have "methylation block". Would that tie in with the MTHFR on my mutation report?

    Also picked up I had a low protein diet and also low stomach acid which we Hashi's tend to be. Also showed that my liver wasn't functioning 100% in detoxing.

    If I pm'd you pics of the report would you be able to decifer some of it for me?

  • Hey

    Afraid it's all chinese to me and I'm just about to start working with a CFS / epigentics func med doc that specialises in this to try and join the dots. I feel I have all the pieces of the puzzle but can't do it on my own. But this doc specifically matches both reports together and then produces a report which explains her logic and gives a treatment pathway, I'm hesitant to recommend as I haven't seen her yet, we are just starting out and she's only seen my 2012 Optimal Nutritional Analysis (when i was very sick) and I'm about to do it again. But from the initial chats we've had I'm impressed with her approach, particularly her insistence that she needs to see the whole picture, and she can't comment until she has.

    Methylation is complicated as you can be an under or over methylator (and this is connected to histamine I think) and also sometimes you have to address other things first before addressing MTHFR.

    If you've ever looked at the Roche Map of biochem pathways in the body you will see why it's complicated.

    I think if you feel rushed and unsure of the logic then it's totally fair to ask questions. You are the patient ...


  • Girlscout2

    I have just looked up nutrigenomic reports on Google and it took me straight to 23andme where I had my mutation report done. I can buy a nutrigenomics report for $37 from my raw data


    would you take a quick peek for me. Is it what I need? The one I have was done back in April with my other nutritionist

  • You need a doctor - I really know no more than you do. Do you have a optimal nutritional analysis? (Pee test)? You need a doctor trained in nutrigenomics who can put it all together for you x

  • Ie a doctor needs to assess both your genetics AND your lab tests.

  • If you want a recommendation for N-Acetyl-Cysteine I would suggest Swanson.


    NAC has a bit of a whiff. You need a product with a good capsule shell to hide it. Swanson work well for me.

  • humanbean

    thanks hon. What does the NAC actually do and what do you use it for? He wanted me on around 950gm per day but I have gone for the 600 Swanson one. Would rather take less initially in case of a reaction, then I can always up it

  • *Don't read if you're squeamish*

    It is used by lots of people for lots of things.

    In my case I'm an ex-smoker. I smoked heavily for a long time. My lungs are in poor condition and I can't always cough up stuff that needs coughing up. NAC makes lung secretions thinner and easier to cough up. I think the technical term is that it is a mucolytic.

    It isn't super-quick in working - I have to take it for a few days before things suddenly start clearing. And if I use it for too long my lungs actually get too dry. I take it for a few days then stop for a few days. Then repeat. Then stop until I need it again. It's only purpose for me is to make me feel more comfortable. I don't expect it to miraculously cure my lungs of all the smoking damage.

  • humanbean

    Had a quick read up on it and it's supposed to be a good antioxidant. He wanted me on around 950mg a day but I think not. Have ordered some Swansons 600mg. Would rather start low then at least if it's OK I can go up

  • Well, dose isn't much of a problem. I can't remember why now but some users take up to 2400mg per day.

  • humanbean

    I am not risking it, as I said I can always up it. In fact just checked and he wants me on 950 twice daily. Will see how I go on that one lol

  • Good luck, hope it helps. :)

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