- MTHFR mutations are one of the most well-studied
genetic variations that can affect our diet and health.
Specifically the variations C677T
and A1298C.
I read them so many times that they're stuck in my head.
This video helps to clarify what each of these variations
are and what they mean for your health.
(light bell music)
MTHFR mutations are actually quite common,
and researchers suspect there are,
at the very least, 30 different types.
C677T and A1298C are the most
well studied and well tested of the lot.
This number and letter sequence refers to
what is known as single nucleotide polymorphism, or SNP.
The letters and numbers describe where
these polymorphisms are and what they look like.
Now, while a normal MTHFR gene would be
C677C, a mutation or polymorphism
has made the gene C677T.
Carriers with a T on the gene may have MTHFR
enzymes that are less efficient, hence issues
associated with an MTHFR mutation.
What about the terms heterozygous and homozygous?
What do they mean?
Well, in genetics, hetero and homo refers to
the two letters on the gene.
In scientific speak, these are known as alleles.
Hetero means different and homo means the same.
To use an obvious example, it's the same
if we're talking about heterosexuality or homosexuality.
For example, for C677T, the alleles are C and T,
which are different, and therefore heterozygous.
Now, T677T is a homozygous mutation, as there are
two copies of the same mutant allele, which is T.
Now, annoyingly, this is typically referred to
as a homozygous C677T,
which gets confusing.
It's not hard to see why this stuff
is confusing and complicated.
There is also compound heterozygous,
which is when you have one mutant allele on both
the C677 and the 1298 base positions.
For example, MTHFR C677T
plus MTHFR A1298C mutations
is a compound heterozygous mutation.
Okay, so which type of MTHFR mutation
is the most potentially harmful?
Heterozygous A1298C is thought to be
of minor consequence if any,
while heterozygous C677T may affect
metabolism by up to 35% at worst.
Homozygous mutations, as well as compound
heterozygous, are considered the most severe or at risk.
Some researchers say homozygous mutations
can inhibit MTHFR enzyme function by up to 70%.
This, of course, can have consequences for
folate metabolism related conditions,
so things like high homocysteine levels
and developing a folate deficiency.
If you want to learn more about those things,
as well as the best diet for you, then check out
some of my other videos on the channel,
or follow the links in the description
for detailed write-ups about it.
Just remember that MTHFR mutations
don't directly make you unwell,
they may make you more susceptible to poor diet
and lifestyle decisions that other people
just seem to get away with.
But now you can use this information as a tool
to make better health decisions for yourself.
If you enjoyed this video and you found it useful,
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and don't forget to click the links in the description
if you want to find out more information
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