Anyone knows anything about genes and can explain this to me

[packedlunchlife]

I don't really understand it
What is the mthfr gene and what does it mean to be homozygous of it ??

I have the same mutation.

You inherit two copies of all the genes you need, once from your mother, one from your father. Homozygous for a mutation means BOTH copies are mutated, in this case on the A1298C region of the gene (I think - your picture is cut off so can't be sure.)

this means you may have difficulty processing the amino acid Goldstein which may cause various health issues (Google Homocysteinemia for.more info)

So we have 4 copies is that correct ?

Not Goldstein!!!! Homocysteine!

I take vitamin b6, b12 and folic acid.

No, you have only two copies of all genes - both your copies from your parents are mutated.

We get our DNA from our Mum and our Dad, and (very simply speaking) you got 1 mthfr gene from your Mum and 1 from your Dad.

A gene is made from a long string of DNA which might look something like this:
atgcaattga. This is called the wild type.

DNA mutates (changes) very frequently. So, over the course of time the string above could change to
tgcaattgc (I've change the last "a" to a "c"). This is called the variant and the location of that change is called a polymorphism.

The vast majority of these changes have no impact at all.

Homo = the same
Hetero = different

Someone who is homozygous for the mthfr gene polymorphism got the variant copy from both their Mum and their Dad i.e. the gene (long string of DNA) with the "c" at the end. Both copies of the gene have the polymorphism i.e. homozygous.

If you got atgcaattga from one parent and tgcaattgc from the other parent the site which is polymorphic is different = heterozygous.

I just looked up the gene and it makes the MTHFR protein which helps your body process folate.

The important part is that the letter states that there is growing evidence that test for this polymorphism has limited clinical use.

And in typing all that out and then looking on the web I see this website which explains it really well!

You have a copy from mum and a copy from dad.

Look up Punett's square.

Will give more explanation later if nobody else does (in a rush) 😁

i can only ever read that as ‘motherfucker’ in my head

My mind is blown I just can't process it 😆

So each of the mthfr genes I got from my mom and dad are BOTH mutated ?

Right the reason I'm asking is because I apparently have something called protein S deficiency which can cause blood clots basically, most common being dvt.
^
Does this mthfr gene mutation relate in ANY way to low protein S does anyone know ?

Sorry for the questions but the doctors haven't a clue unless they're a specialist so my best bet atm is asking on here^

I am heterozygous for this variant. Many of us who have it call it the Motherfcker gene because it can make you not detox effectively, leading to food and chemical sensitivity. I used to have both conditions but found a cure, fortunately. A friend who is homozygous for the Motherfcker says she and those like her have less of a chance of recovery. I haven’t met enough of us Motherf*ckers to know if this is true.

Sorry autocorrect removed asterisks inserted for respectability and made a section bold instead!

Yes, both your genes are mutated.

This mutation is involved in the breakdown of proteins so I would assume it's related to your protein issues.

This video explains the MTHFR gene well, in addition to what health issues it can cause.

This is why I love Mumsnet !

Ahh thank you ! I've got my head around it a bit more now.

I was so confused as the only reason i know about this mutation and the low protein S is after I miscarried (ivf) I was advised to have blood tests to see why the cycles kept failing. I actually fell pregnant naturally, when I had the blood test I would've ovulated about two weeks before so I didn't know I was pregnant yet.

I've read that low protein S can be acquired through pregnancy, so of course it has me thinking, could it be that's why it came back low even though I'd have been like 4 days pregnant or something !!

But now reading about the mthfr gene and it's link to blood clots/proteins etc maybe I was born with it afterall... which means my baby girl will need genetic testing as the hospital advised when she was born

Sorry a lot of Info to take in there !

Not just me then 😁

Make sure you take folic acid suppliments and b vitamins won't you, because like me you won't be able to absorb it very well and a lack of folic acid means a higher risk of neurological issues like spina bifida in your baby.

Scientists are currently studying these conditions - known as inborn errors of metabolism - as a cause of many different disorders, often ones that affect the spinal cord and brain.

good luck with the baby, hope all goes well.

@MissWired thanks, I took folic acid the whole way through my pregnancy although you can stop at 12 weeks, I was very anxious this time around after all that had happened so just carried on with it ! Now I'm taking a daily multivitamin

There are a number of different mutations on that gene and yours is in a section with less clinical associations. Your mutation is nearer the more well known 1298 variant in the sequence, which is thought to only have an effect if the other mutation (667) is present as well.

www.ncbi.nlm.nih.gov/books/NBK66131/

So don't worry too much, they'll check your hormone levels but if they are fine you can stop worrying.

Random, sorry, but if a stallion is homozygous for being coloured (black/brown and white) means he always produces coloured foals. Does being homozygous for the motherfucker mean it will always pass onto the child? Sorry, don’t mean to panic the OP.

OP people take clexane injections during pregnancy for this reason/condition.

(I actually don’t have this but have a blood clotting disorder).

Yeah I injected heparin for the whole 9 months, only just stopped 6 weeks post partum!

Thank you that is reassuring.
Just don't want my baby to have all this stuff aswell

Congrats 🎉. I remember those injection site bruises well!

Can I gently wonder if maybe it should be FOLATE that is supplemented and not folic acid? The body can deal better with the Folate if the mthfr gene is missing/, incorrect?

@BakedRightOff yup awful ! I still have lumps in my belly 😩