Tuesday, July 30, 2013

MTHFR and Gene mutations that effect pregnancy

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.

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

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'