I’m going to
talk to you today about methylation issues and specifically a mutated gene. As
you may remember I eluded to this in the last post when I talked about how some
people may be unable to break down folic acid. You may be interested in this if
you have suffered multiple miscarriages, have auto immune disease, depression,
cardiovascular issues and a multitude of symptoms. This is a complex discussion
as the research is very new in this area. My goal is to help give you a basic
understanding of this and how it relates to pregnancy.
What is MTHFR?
MTHFR
(5,10-methylenetetrahydrofolate reductase) is a specific gene found on a
specific chromosome within every cell in every person. The MTHFR gene produces
an enzyme responsible for a multi-step process that converts folic acid to the
amino acid homocysteine to another amino acid, methionine. The body uses methionine
to make proteins and other important compounds.
An abnormal
change in gene structure, called a mutation,
of the MTHFR gene can cause a disruption of the MTHFR enzyme’s normal function
of breaking down homocysteine.
The two
common MTHFR gene mutations occur at specific locations called “positions”
along the gene. The one we generally test for is located at position 677. At
this location, one amino acid base pair is different, in that Cytosine is
replaced by Thymine. This mutation is called C677T. Another mutation we test
for occurs at position 1298. At this location, Adenine is replaced by Cytosine
and is therefore called A1298C.
MTHFR
mutations are common. The
mutations can be “heterozygous” meaning they occur only on one strand or
“allele” of the chromosome, or they can be “homozygous”, occurring on both alleles. The frequency of a heterozygous C677T
mutation is common, occurring in about 35% of the population. The homozygous C677T mutation is about
5-10% of the population.
A mutation in A1298T is more common but is generally less problematic. The
homozygous variety of A1298T occurs in 9% of the population. Another mutation
involves both the C677T and the A1298T alleles. This is a “compound heterozygous”
condition that occurs in approximately 17% of the population.
That’s
the science bit over…
How
does this affect pregnancy?
If the MTHFR
gene is malfunctioning, homocysteine can build up and cause problems, both in
the cardiovascular system, but also with pregnancy.
Some
MTHFR mutations are more serious than others as far as their ability to cause
problems during pregnancy.
Specifically, women who have multiple pregnancy losses are more likely to have
a MTHFR gene mutation.
The
association of MTHFR and recurrent pregnancy loss is under great debate. Some
clinicians and researchers feel that the mutations can cause blood clots
between the developing placenta and uterine wall, thus preventing transport of
vital nutrition to the developing foetus. This usually occurs early in
pregnancy when the embryo or foetus is most vulnerable.
It is
unlikely that the exact mechanism of how MTHFR affects pregnancy loss will be
worked out in the near future. As a result, women and clinicians need to
understand that there is no set “standard of care” protocol for dealing with
recurrent miscarriage in the presence of a MTHFR mutation.
If you have the gene polymorphism, it will always be there. However you can make it work a little better and therefore you may benefit from therapy if yu have homozygous C677T mutation, and
what is termed “compound heterozygote” mutation or if you are heterozygous for both C677T
and A1298T.
Folic acid and assimilation in the
body.
Many women
want to ensure they are getting all of the vitamins and nutrients needed for a
healthy pregnancy. It is extremely important to make sure that you and your
baby are provided with these essential nutrients. One of the essential
nutrients needed for pregnancy is folate. Folate plays an important role within
pregnancy. Folate is needed for growth and development of a healthy baby. Contrary
to clinicians and non reproductive specialists knowledge Folic acid is NOT particularly
helpful if you have MTHFR- with MTHFR you have problems converting folic acid
to a usable form for foetal development. Additional symptoms associated with
this condition are depression and weight problems and cardiovascular problems.
Taking synthetic regular folic acid may make it harder for your body to
absorb the folate it needs.
Folate is essential to healthy DNA replication, which is inherent for developing babies.
Many women know to take folic acid during pregnancy, but few know
whether their bodies can fully process it. Folic acid is synthetic (man-made)
and must go through a four-step conversion process in order for the body to use
it. Unfortunately, over 50% of pregnant women in the U.S. and 33% of the
UK have a genetic disorder MTHFR Polymorphism that limits the conversion
process.
If your
doctor does not know much about the MTHFR protocol, this is not uncommon as many doctors are unaware of the extent to which MTHFR can affect
symptoms and quality of life (and honestly people can be affected quite
differently, this is mainly because we all have other genetic challenges that
factor into the mix of symptoms we experience).
Why don't doctor's know about this? Mainly because it takes about 18 years for a known medical fact to become a part of the 'typical medical practice' (and we're just not there yet with the genetics). If you're aware of this, you're ahead of the curve and may find some early answers to some long-time issues you've been suffering from.
Why don't doctor's know about this? Mainly because it takes about 18 years for a known medical fact to become a part of the 'typical medical practice' (and we're just not there yet with the genetics). If you're aware of this, you're ahead of the curve and may find some early answers to some long-time issues you've been suffering from.
In my
research I have discovered that there
seems to be three dominant practitioners in this field who work in subtly different ways in regards to dosage and
protocol. They are Dr. Rawlins (MD - Gynecologist) Dr Tim
Jackson and Dr. Lynch (Naturopath).
1. The MD, Dr. Rawlins, talks in terms of the prescription versions of methylfolate available today, which are high dose options (3 mg and 7.5/15 mg in MetaNX and Deplin respectively to treat Diabetes neuropathy and Depression, even 5.6 mg in Cerefolin for Alzheimer's)..http://www.rawlins.org/mthfr/mthfr.html
1. The MD, Dr. Rawlins, talks in terms of the prescription versions of methylfolate available today, which are high dose options (3 mg and 7.5/15 mg in MetaNX and Deplin respectively to treat Diabetes neuropathy and Depression, even 5.6 mg in Cerefolin for Alzheimer's)..http://www.rawlins.org/mthfr/mthfr.html
2. Dr Tim
Jacksons works around the website MTHFR support and is very much in favour of treating the
gut health through extensive analysis before proceeding with the protocol for
those who present with MTHFR . He is also very much in favour of looking at
methylation issues and other genetic predispositions through 23andme.com .http://www.mthfrsupport.com/reports-consults/drtimjackson/
3. The Naturopathic Dr Ben Lynch, talks in terms
of lower dosage available and he has also
put together his own supplement range, which represents a lower value in the ranges such as (800 mcg -1 mg). He
has found this appropriate for people unable to tolerate large doses (due to
detox or over-methylation). http://mthfr.net/
He is passionate about this subject and the route of much of my knowledge in
and around MTHFR. He regularly provides podcasts on the subject and replies to
posts on the website.
Other support pages that may help you
with this that are particularly useful are:
http://www.mthfrsupport.com/ Set up by
Sterling Hill who was treated and supported by Dr Ben Lynch and now runs this
support page. She also runs the facebook page MTHFR https://www.facebook.com/mthfrsupport
Treatment Protocol
You can’t change a defective gene. But you can help it do its job better
and minimize problems. The treatment depends
very much on the type of Mutation you have ie homozygous C677T mutation, and or
“compound heterozygote” mutation: heterozygous for both C677T and A1298T.
It is
advisable to seek advice through a trained MTHFR specialist, if you have this
gene mutation, as self-prescribing can lead to under or over methylation and a
whole host of nasty side effect. I have been treating many clients with this disorder over the past year. My advice is read through the links above, and
if you feel this resonates with you seek out a practitioner who can help you
with this. In the UK the Doctors Lab test for MTHFR as do a few other labs, however this test isn't cheap and the protocol that comes with this is a lifetime commitment. I however think it is worth every penny as if the protocol is correct many of the symptoms people suffered from for years seem to be better.I have also had some successful positive pregnancies after years of IVF without success and also babies being born to couples previously deemed ' unexplained infertility'
