D102 gene test

[MuffinSx]

Hi everyone. Been reading up on this d102 gene test as someone suggested to me the other day and don't quite get it. I understand you have to do counselling before you can get tested? How do you go about this? Has anybody had the test and know what's involved? Any info would be great 😊 thank you x

[mourneadventurer]

Hello Muffinsx,

I have had the DIO2 test done recently.

Contact Justin at Regenerus laboratories (0333 9000979) further details are on the ThyroidUK site. To start with you'll have to decide if you want your results to go directly to yourself and speak with a genetic counsellor or your own medical practitioner and they speak with you. I choose the former.

The saliva swab gets posted out to you and there's a comprehension questionaire to fill in. As it goes to Luxembourg the turn around time is a couple of weeks.

I opted to bite the bullet and pay for both the swab and genetic counsellor at £60 each a total of £120.

I now know why I'm Biochemically "normal" i.e. within Thyroid panel range for my GP but CLINICALLY hypothyroid for the past 27 years as I have a faulty DIO2 gene expression.

This enzyme is crucial (amongst others) and is the final biochemical reaction from the blood T4 into the cell mitochondria T3 releasing the vital molecule of iodine to every cell in the body.

The test is worth every penny especially when I read your Bio. I hope this helps.

Best Wishes

Mourneadventurer

[MuffinSx in reply to mourneadventurer]

Thanks very much for your response. I don't really understand things very well unless it's put into someone's words so for that i thank you. im from Scotland is it the same protocol everywhere?

[mourneadventurer in reply to MuffinSx]

Hello MuffinSx,

I can't speak for anywhere else other than NI and my experience of my local GP whom I respect. It was my frustration with him not hearing me and not treating me holistically that gave me the impetus to search for my root cause of an under-active thyroid.

I believe that Doctor's are doing the best they can given their training, tight appointment times and what they are allowed to do by the health trust.

When the thyroid is knocked out of alignment it involves the whole endocrine system.

GP's are trained to treat symptoms but not the root cause. We've got to have a reason big enough to help them find it and you have!

Best Wishes

Mourneadventurer

[Danifox6 in reply to mourneadventurer]

Hi there. If my result was Heterozygous variant genotype TA ....what does that mean and would i benefit from t3 please ?

thank you, trying to get my head round it all...

[mourneadventurer in reply to Danifox6]

Hello Danifox6,

it means that like me - you are unable to convert inactive T4 (4 molecules of iodine) to T3 (3 molecules of iodine) to "every cell" in your body. If this doesn't happen then we actually become clinically hypothyroid but appear to be biochemically normal according to the standard thyroid panel tests.

I have been on T4 for 27 years and I am acutely hypothyroid with challenging bradycardia and that was seemingly unconnected!!!!!

This conversion needs a sequence of minerals, vitamins and cofactors to work and can be blocked by other seemingly disconnected Primary causes such as low stomach acid and leaky gut or heavy metal build up due to the liver pathways not detoxing to name a couple.

I ensured that I got baseline results, supplemented correctly wrote down my symptoms and took the DIO2 heterozygous results to my GP. He admitted to not having that knowledge and referred me on to a consultant endo whom I saw yesterday. The first in 27 years!

When presented with the results and tests the Endo said I was acutely hypothyroid and put me on to a low dose of T3 morning and lunch time to start alongside the T4. This was within 2 minutes.

I cried with relief - to speak with a doctor who finally understood, affirmed and confirmed my research was overwhelming.

I sincerely wish you well. If I can be of further assistance please just ask.

I'm off to get T3...and my life back.

Wishing us all Good Health,

Mourneadventurer

[Danifox6 in reply to mourneadventurer]

Thank you for the reply. I understand it much better now ! Are you in the UK ??

[mourneadventurer in reply to Danifox6]

Hello Danifox6,

I currently live in Northern Ireland. Even with a minimum dose of 20mcg of T3 I am beginning to see an improvement in my Bradycardia. The Endo asked for an ultra-sound scan and blood tests to check if I have Hashimoto's thryoiditis.

In the mean-time further research has taken me to the following:

!. Genetic Predisposition --- DIO2 and now a 23andme.co.uk

2. Exposure to chemicals -- Concentrated in thyroid and causes inflammation. Bionetics hair test... Going through all chemicals including beauty products in the house!

3. Hormone fluctuation---- Ovaries and adrenals - balance

4. Immune system stressors----- Food intolerances and gut healing. Just finished reading Tom Brimeyer's "Hypothyroidism Revolution" and adjusting my diet accordingly.

5. Doing everything I can to bring myself back into balance to prevent "friendly fire" on my thyroid from my immune system.

It really is quite overwhelming Danifox6 at first. I've always opted for a natural solution to most things and I'm endeavouring to do that.

Wishing you every success in your journey back to full health!

Mourneadventurer

[Danifox6 in reply to mourneadventurer]

Thanks for the reply. Yes i am in to natural things too! I clean with vinegar, all our shampoos are nasty free...etc

[Numberone1 in reply to mourneadventurer]

Im still waiting for my 23andme results. Does it show up this gene?

[mourneadventurer in reply to Numberone1]

Hello Numberone1, I'm unsure about that so you might need to ask them. I did a DIO2 test through Regenerus via ThyroidUK. When you get your results you'll be able to put them into another program such as Nutrahacker. I'm exploring the Great Plains genetic test linked with their Organic acids test.

It is useful to know what your DIO2 status is and the conversion from T4 to T3 is also affected by high cortisol.

Don't forget that your genetics are not the end story they can be altered by environmental conditions i.e your diet and lifestyle.

Best Wishes Mourneadventurer.

[helvella Administrator in reply to Numberone1]

My 23andme results included:

Gene Position SNP Versions

DIO2 80669580 rs225014 C or T

DIO2 80669929 rs225013 G or T

DIO2, LOC100628307 80678266 rs12885300 C or T

DIO2, LOC100628307 80681384 rs17110449 A or G

DIO2, LOC100628307 80684704 rs224995 C or T

(My personal results not included.)

[Numberone1 in reply to helvella]

What have you been able to tell from this.

[helvella Administrator in reply to helvella]

It was ages ago that I looked it up - I don't think I had any of the recognised issues. The key might be that the variations I have simply have not yet been recognised as having any impact - but I suspect it means that nothing they looked at was a problem.

[Numberone1 in reply to helvella]

I thought the rs 225014 was the gene that is relevant?

[helvella Administrator in reply to Numberone1]

Numberone1,

think we all struggle to understand all of this - I know I do. The rs numbers are SNPs, single nucleotide polymorphisms.

A single gene might be known to have several SNPs that can occur within it. In this case, the DIO2 gene. Rather neatly, the DIO2 gene codes for making the enzyme deiodinase 2 - also known as DIO2.

You rightly mention rs225014 but there are other SNPs such as rs225012 and rs225010. Who knows what other SNPs remain to be identified? And the full effects of the known SNPs?

This paper:

hmg.oxfordjournals.org/cont...

... mentions rs225014 in combination with the common allele of rs12885300 - so perhaps it isn't just having the unusual allele of rs225014 but what else you have in that gene?

Anyone thinks I am talking rubbish, let us know.

[Airmed in reply to mourneadventurer]

Hi, I am just about to take the test with Regenerus. Are the results easily interpreted or do they tell you you have a faulty gene etc.

[mourneadventurer in reply to Airmed]

Hello Airmed, since I last wrote to you I've completed an organic acids test with the Great Plains Laboratories brilliant explanatory podcasts. They now have linked a genetics test to their organic acid test (OAT) Worth having a look at. You might need a functional nutritionist to explain the report. They can provide one I think on labtests.com. I've done the OAT test and it has earned its keep! When I get around to checking it again I want to do the accompanying genetic test if I can manage it at that time.

Going back to your question - legally any genetic test must be explained to a client by a suitably qualified person. REGENERUS will put you in touch with someone unless you don't mind your results going to your GP?

My DIO2 genetic polymorphism heterozygous result was the deciding factor for my GP to let me have my first referral to an endocrinologist in 27+ years! It will only test that. Also the conversion of T4 to T3 can be blocked by other things including high cortisol.

Best Wishes Airmed whatever you decide to do,

Mourneadventurer

[Airmed in reply to mourneadventurer]

Hi mourneadventurer, thank you for the information. Will go ahead and get the gene test done. I'm currently taking T3 only on the NHS. Reading many of the posts suggest that this may not last. Reading BTA papers fills me with horror too as they still believe T4 is the only treatment for hypothyroidism. I sincerely wish that these medics could live my T4 life for a week and then things would change for sure. Was going to have results posted to doctor but then thought if normal may decide I don't need T3 after all, somewhat of an own goal! I am simply hoping to be told I have a defective Doi2 gene and do not convert T4 to T3 so will have ammunition to either keep T3 or sue the NHS for withdrawing treatment. It will probably be Sod's law, the only time I want something to be wrong it will be perfect. Will post. After all the only parameter that changed when I got my life back post thyroidectomy was substituting T4 for T3 to me it is so simple. I am so sorry to hear you had to wait 27 years to see an endo.

Thank you once again. Keep well. Airmed

[mourneadventurer in reply to Airmed]

You're welcome Airmed.

Best Wishes

Mourneadventurer

[shaws Administrator]

Following on from Mourneadventurer's response - this is the detail.

thyroiduk.org.uk/tuk/testin...

[MuffinSx in reply to shaws]

Thank you shaws. I had a read at this earlier trying to take everything in before my first endo appt on Thursday and I'm confusing myself with everything lol. I just found out all of these things and it's a bit overwhelming to think if I never found these groups I would never have known all my symptoms are linked.

[Treepie in reply to shaws]

Isn't it likely that this would cause problems at an early age and not be a cause of onset in the late 60's?

[shaws Administrator in reply to Treepie]

I'm not sure. I was diagnosed in my 60's - couldn't tolerate levo(T4) but am well on T3. I've not had a D102 test but as T3 suits me so well I might well have.

I believe it is only if someone has been prescribed levothyroxine and complaining a lot with continuing symptoms/or new ones that might be a probability. If levothyroxine suits you and makes you feel well then (my guess) is that you don't have a D102 gene which causes the problem. I believe if you have a D102 gene it prevents the conversion of T4 to T3 in the liver.

Someone will correct if I have made a wrong statement.

[Treepie in reply to shaws]

I suppose a gene could predispose you to certain effects which may only occur if some other event occurs e.g a severe viral illness.

I just wondered if it would be worth testing. I am much improved on T4 then a year ago but do have residual symptoms and a new one which may or may not be thyroid related : impingement syndrome in both shoulders .

[shaws Administrator in reply to Treepie]

Is your TSH around 1 or a bit lower. Some of us feel an improvement then. Dr Toft recommends:-

The appropriate dose of levothyroxine is that which restores euthyroidism and serum TSH to the lower part of the reference range – 0.2-0.5mU/l.

In this case, free thyroxine is likely to be in the upper part of its reference range or even slightly elevated – 18-22pmol/l. Most patients will feel well in that circumstance.

But some need a higher dose of levothyroxine to suppress serum TSH and then the serum-free T4 concentration will be elevated at around 24-28pmol/l.

This ‘exogenous subclinical hyperthyroidism’ is not dangerous as long as serum T3 is unequivocally normal – that is, serum total around T3 1.7nmol/l (reference range 1.0-2.2nmol/l).

Even while taking the slightly higher dose of levothyroxine a handful of patients continue to complain that a sense of wellbeing has not been restored. A trial of levothyroxine and tri-iodothyronine is not unreasonable. The dose of levothyroxine should be reduced by 50µg daily and tri iodothyronine in a dose of 10µg (half a tablet) daily added.

[Treepie in reply to shaws]

Thanks Shaws, When last tested in January TSH was 0.33 ,FT4 18.9 (11-22.6) ,FT3 6.2 (3.5-6.5).

I think I will arrange to see private endo again to discuss options. He said he would be prepared to prescribe Armour . I suspect more T4might do the business but GP will not go there even though it would then be what he predicted I would need when first diagnosed with TSH 102.

[shaws Administrator in reply to Treepie]

I would plump for Armour personally.

[shaws Administrator]

I have just read your profile and the fact that you've had fertility treatment. Is not your doctor aware that fertility/pregnancy problems occur when someone is hypothyroid, particularly if they are not on an optimum of thyroid hormones.

If you've not had a recent blood test, ask your GP for one. Ask him to test TSH, T4, T3, Free T4 and Free T3 (he may not do all but ask anyway).

Blood Test: Have the earliest possible appointment . Leave 24 hours since last dose of levo and test as it may skew results and fast (you can drink water). Take levo after test.

Ask for Vitamin B12, Vit D, iron, ferritin and folate to be tested. They should be towards the upper range.

Always get a print-out of your blood test results with the ranges, for your own records and so you can post them if you have a query. We are entitled to them.

web.archive.org/web/2010103...

Some questions on the above link may be helpful.

[MuffinSx in reply to shaws]

Hi shaws. I actually wasn't aware I had a problem until my IVF failed and the constultant done a thyroid test on the 1/4/15 at this time I was on 75mg of levo my ft4 18.9 tsh8.03 he said I had to go back to the doc and get more levo as they need it under 2.5 for the treatment. I did that and got put upto 100mg got another blood test 5/6/15 ft4 18.9 tsh 1.53 which was better. but by this time I have ALOT of symptoms. I did a lot of research and thought I would go private and get a load of blood tests done.

white blood count 4.4 (4-11)

red cell count 4.44 (3.80-5.80)

haemoglobin 142 (115-165)

haematocrit 0.410 (0.370-0.470)

mean cell volume 92.3 (80-100)

mch 32 (27-32)

platelet count302 (150-400)

neutrophils 2.4 (2-7.5)

lymphocytes 1.6 (1.5-4)

monocytes 0.3 (0.2-0.8)

eosinophils0.1 (0.0-0.4)

basophils 0.0

nucleated0.0

esr 7 (1.12)

b12 347 (200-900)

ferritin 83 (15-200)

folate 14.5 (3.1-20.0)

Doc said all fine so I paid and got a full thyroid done

11/7/15

t4 151(59-154)

tsh 3.88 (0.27-4.2)

ft4 20.1 (12-22)

ft3 4.8(3.1-6.8)

thyroglub 17.8(0-115)

tpa 5.0 (0-34)

seems like my range seems fix itself for a month and then go back up again

P.s sorry for the long post. im just stuck in a rut

[Roadrunnergreg in reply to MuffinSx]

Hi just looked at your MCV, (mean cell volume) it's high really, an MCV above 85 is an indicator of low stomach acid, the consequence of this is poor nutrient absorption like B12, magnesium, iron, etc so irrespective of how much goes down the throat, it won't absorb properly, plus could be low in healthy bacteria too. Stomach acid is needed for more than food digestion it's part of your first line of defence...

[Roadrunnergreg]

Ok you don't have a defective gene, you cannot produce deidonase to knock off the iodine molecules to make T3 guess why you cannot make deidonase because "T2 is needed to make deidonase, you lack T2" NDT should resolve this as it has in it T1-2-3-4 and calcitonin. Hope this helps