Breaking Down MTHFR

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The mysterious MTHFR gene has taken social media by storm, but behind the TikTok trends lies a crucial piece of your health puzzle. We dive deep into what this gene actually does—functioning as the gatekeeper for how your body processes folate and breaks down homocysteine, an amino acid that can wreak havoc when levels climb too high.

Women with this gene mutation often face unique challenges, as the effects tend to manifest more strongly in female bodies. Those unexplained bouts of bloating after dairy or processed foods? That persistent brain fog? These seemingly disconnected symptoms might trace back to this single genetic variation. The conversation reveals how MTHFR mutations disrupt methylation—a critical process affecting everything from neurotransmitter production to detoxification pathways.

Most alarmingly, we uncover the long-term risks that rarely make headlines: increased vulnerability to cardiovascular disease, stroke, and dementia. With over twelve significant genetic variants that can affect methylation, understanding your specific MTHFR status might be more important than you realize. Whether you're struggling with unexplained symptoms or simply want to optimize your health, this discussion offers valuable insights into the genetic factors that might be silently influencing your wellbeing every day. Ready to decode what your genes are trying to tell you?

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Episode Transcript

Nicole (00:02):
Hey guys, welcome back to tattoos and telehealth, and
today we wanted to talk to youabout a gene called the MTHFR
gene, and Kelli knows a lotabout it.
I do not know a lot about itand so I'm interested in picking
her brain.
There's been tons of um, tonsof TikTok and YouTube and all of

(00:23):
these things about if you havethis gene, if you have this gene
mutation, the symptoms that itcan cause, how you know how
frequent it is, and so reallyit's kind of come to light over
the last six months to a year,and Kelli is knows all about it.
So I have asked her to talkabout it today.
As usual, this is not to beconsidered medical advice.

(00:46):
We're just two girls justchatting away and our lawyers
make us say this also does notconstitute a patient provider
relationship.
, So,Kelli, take it off.
What is the MTHFR gene?
What is the mutation?
What are the?
Just give us, give us thedetails.

Kelli (01:05):
So MTHFR is a long word, that girl, I'm not even going to
try to say it, I will butcherthat name, I'm not even going to
try to go there.
But it is a rate limitingenzyme in the methyl cycle and
basically its job is to convertseveral things.
So let me break it down.

(01:25):
So folate is required to breakdown homocysteine, which is an
amino acid.
So we tell people, I tellladies especially and I'm going
to kind of gear this moretowards women it does affect men
, in fact there's a smallpercentage of men that are, that
are um, affected by MTHFRGmutation but it affects women a

(01:47):
little bit more, um, and womenseem to be a little bit more
symptomatic because we havebabies, we have reproductive
systems and so, um, it can be alittle bit more um relatable to
us.
But having said all of that,you know when we, as we age, we
are working really hard onmaintaining our skeletal muscles
, to protect our bones, etcetera.

(02:08):
So when you have something thatyou're trying to take in to
better your body, like aminoacids, and you have a gene
mutation that can disrupt that,if you have that MTHFR gene
mutation, your body may not beable to break down folate as
well as it should.
Okay, so folate is the problem.

(02:29):
So MTHFR gene mutation disruptsyour body's ability to break
down homocysteine because itaffects the way your body
responds to folate.
Okay, so you will often hearyour provider say you need to
have methylated versions ofwhatever.
Okay, so this leads toincreased levels of homocysteine

(02:54):
in your body, which canpotentially cause some health
problems.
So there's all kinds of foodsthat you should avoid um
activities, things that you needto think about.
But, real quick, I want you tothink about if you are that
person that you realize you getbloated, you get a stomach ache,

(03:16):
you don't feel good after youconsume dairy, processed foods,
gluten, things that have foodadditives, you may have this
gene mutation.
I'm not saying that you do Not,everybody does but that could be
a sign that, potentially, youhave that particular gene
mutation.
So there are a lot of risksthat go along with this.

(03:39):
Okay, one of the big thingsthat I want to really hone in on
today is not only do you needto worry about what this gene
mutation can do for you on acellular level, with breaking
down amino acids and folate andthings like that.
It really means much, much morethan that.
Okay.
Mthfr polymorphisms increaseyour risk of cardiovascular

(04:03):
disease, cerebrovascular diseaseand dementia so big big deal.
I really want to hit home withthe fact that it can increase
the risk for those things.
So there are a few variants outthere.
They impair methylation, butthere are over 12 clinically
significant polymorphisms thatwe rarely consider when we're

(04:26):
talking about MTHFRG mutations.
No-transcript.