DI02 result

[Yammie1973]

Hi

My saliva result finally came in....what does Heterozygous variant genotype TA mean: from what I can tell, is that I have inherited a faulty gene from my mum as my late father didn't have any thyroid problems. Just need my thoughts confirming.

Thank you 😊

[SlowDragon Administrator]

If your Mum has thyroid problem it’s more likely inherited from her. But can’t definitely assume that

It means you only inherited from one parent, not from both

Your mum could be heterozygous or even homozygous

[Yammie1973 in reply to SlowDragon]

Thanks, definitely from my mum as she has an underactive thyroid aswell.

[SlowDragon Administrator in reply to Yammie1973]

If you were homozygous it would be from both parents

You might want to consider getting her tested

[helvella Administrator]

For clarity, the gene that affects T4 to T3 conversion is called DIO2 - that is, three letters and a number. Not D102 - a letter and three numbers. Not DI02 - two letters and two numbers.

The name comes from the enzyme that this gene affects which is a deiodinase. It removes an iodine atom from a thyroid hormone molecule - it deiodinates it.

On this forum we probably understand, but if you wish to look it up anywhere, it might help to get it right. If you are discussing with a doctor, and get it wrong, you are providing an excuse for them to dismiss what you say.

(More strictly, two single-nucleotide polymorphisms (SNPs) on the DIO2 gene, rs225014 and rs225015.)

academic.oup.com/jcem/artic...

The Wiki article provides a basic introduction as to what a single-nucleotide polymorphism (SNP) is and why it can be important:

en.wikipedia.org/wiki/Singl...

[Yammie1973 in reply to helvella]

Apologies if I got the spelling wrong, By the time I wrote the request, I had worked a 10 hour day, come home to a mother with Alzheimer's and a husband who had to sit with her tomorrow whilst she had cataract surgery after working a 12 hour shift....I will try to remember for the future, thank you 😊

[Yammie1973 in reply to helvella]

Thanks again

Even looking at the articles you provided (thank you by the way), it is all in clinical speak and I only do basic english, it's all gobbly gook to me... So I have a faulty gene that stops my body converting T4 in my blood stream to T3 which every cell in my body needs/requires...have I got that part right at least??

[helvella Administrator in reply to Yammie1973]

Close. But having this less common version doesn't entirely stop you converting T4 into T3, just reduces your capacity to convert.

If you had the same version from both parents, that is very much shown to have an impact.

Having the "normal" version from one parent, and the unusual one from the other parent, leaves in in a slightly less clear place. Yes, it is believed that has an impact but it is not as well understood.

[Yammie1973 in reply to helvella]

Wow, thank you for making this a little clearer... So, I am converting some T4 to T3 but not as much as I should be. In that case I should be requesting (demanding if talking to the NHS) a prescription (at the very least on paper) for additional T3 tablets. I don't mind sourcing this privately as I know that the NHS are all concerned about funding etc. I will be seeing a functional medicine practitioner who is also an endocrinologist privately in September. This info as well as the report from the laboratory and the medichecks blood tests, should go a long way to convincing someone of the validity of my need for at least topping up the T3. I'm already on 200mcg a day of levothyroxin and my last TSH was 0.015mIU/L. I don't think that it can get any lower.

[Hidden in reply to helvella]

Just found the ThyroidUK article about it. Fairly easy to read, not so technical: thyroiduk.org.uk/tuk/testin...

I had trouble as well remembering DIO2, thought it was D letter I zero2. Have to remember that it means DIOdinase. Makes me think of the Banana Boat Song - Day-O, Day-O, Daylight come and me wanna go home

[Yammie1973 in reply to Hidden]

Wow, thank you. I like this guy (just read his article) rest assured I will be taking this with me on my next visit to my GP AND my functional medicine practitioner appointment....with any luck, I may just get the necessary T3 that my body desperately needs. My mum has Alzheimer's and I am totally convinced (nothing will convince me otherwise) that because she has been undertreated for autoimmune thyroiditis for years and years, it has resulted in her having alzheimers. My faulty gene has come from her and my father was as healthy as an ox.