Tag Archives: MTHFR and heart heatlh

I Have MTHFR C677T Mutation – What Does That Actually Mean?

MTHFR mutations are just starting to be recognized as an issue and so more and more doctors are testing, but what happens if your doctor tells you that you’re homozygous for MTHFR C677T? They might as well be speaking Greek! So here’s the skinny on what that really means. Also here’s a post about MTHFR mutation basic in general.

MTHFR C677T Terminology Basics (or as basic as we’re going to get with genetics).

The simplest level of information here is just the plain genetics.  Here are some quick factoids to get us started:

  • MTHFR is the short name for the genes that code for the enzyme that changes folic acid to the active form that your body uses (the long name is methylfolate reductace).
  • 677 is the marker for one particular MTHFR gene.
  • The official genetics labeling of this gene is Rs1801133. Sigh.
  • You get one copy of this gene from your mother and one from your father, so there are two possible copies that can be either “normal” or “mutant”
  • If you inherited one good copy and one bad copy that’s called “heterozygous C677T”
  • If you inherited two bad copies (one from each parent) that’s called “homozygous C677T”
  • C…T stand for the bases that you actually have.  C = cytosine, T = thymine.  Bases are essentially the letters that spell out your genetic code.  There are four of them commonly (C, T, A and G).
  • When this gene is “normal” it looks like MTHFR C677C.
  • Heterozygous mutations are MTHFR C677T because there is one normal C and one abnormal T. Also occasionally written 677CT.
  • Homozygous C677T can also be written as T677T (because there are two abnormal copies with T instead of C). Occasionally you’ll also see it written 677TT




Phew! So the take-away there is MTHFR C677T means you have at least one bad copy of this gene, and if it’s called homozygous, or T677T then you have two bad copies.

How Much of a Problem Is This?

This can be a significant problem If you don’t have a good diet or you don’t take supplements. If you get lots of dark green leafy veggies, legumes and other food sources of natural folate – see this post – then you’re probably already getting good methylfolate. If your diet isn’t up to scratch, then supplementation can be useful and here’s a whole post about that.

Heterozygous MTHFR C677T have about 65% normal MTHFR activity (so 35% compromise) and homozygous MTHFR C677T (T677T) have about 30% normal activity (so 70% compromise). Normal activity refers to the way your body activates your folic acid so that it can be used, so compromise usually looks like a functional folate deficiency.

What Are The Health Risks of C677T Mutation?

According to SNPedia, which compiles research on genetics, C677T mutants have been shown in at least one research study to have an increased risk for:

  • Midline defects such as:
    • Cleft lip
    • Cleft palate
    • Neural tube defects
    • Facial asymmetries
  • Cancers including:
    • Breast
    • Lung
    • Brain
    • Stomach
    • Head and neck
    • Kidney
  • Cardiac-related issues including:
    • Thrombosis (increased tendency to clot inappropriately)
    • High homocysteine levels (a heart risk)
    • Pre-eclampsia (dangerous high blood pressure in pregnancy)
    • Vascular dementia
  • Fertility issues including:
    • Multiple pregnancy loss
    • Low sperm count
    • Birth defects such as down syndrome
  • Neurological issues including:
    • Migraines
    • Autism
    • Alzheimer’s dementia
  • Mood and psychological issues including:
    • Depression
    • Anxiety
    • Schizophrenia

You’ll notice that this is quite a list, and it can be a little daunting to think about when you’re just learning about this.

What Do You Do About This?

Compromise with the MTHFR C677T gene can have severe consequences so it’s important to work on getting good sources of natural folate, which is generally useable by mutants, or 5-MTHF (5-methyltetrahydrofolate) which is already methylated so the genetic compromise doesn’t matter.  As discussed in this article, I feel supplementation should be started slowly because for many mutants who haven’t had active forms of folate very much in their lives it feels really strange when those active forms start showing up and there is a whole lot of adjusting by your body.  This activated folate is used by your body to run enzyme pathways, to aid in some parts of normal metabolism, to help your body detoxify and even to methylate your DNA. If it isn’t there then your body does what it can, but what it can’t do starts to pile up. Any time you start supplementation then your body starts digging in that pile to clear up high priority items.  This is exactly what we want, but if you start with high doses of a supplement then it’s a little like drinking from the firehose.  Kind of out of control and not very pleasant.

A great way to start if you’re unsure, is with a folate-rich diet.  I love this image because it kind of covers what we’re looking for.  Hint – think dark greens and beans. 🙂

Is folate in foods safe in MTHFR mutants? In these foods YES - even for MTHFR C677T mutants. Thanks to exhibithealth.com for the great image.

Is folate in foods safe in MTHFR mutants? In these foods YES, even for MTHFR C677T mutants. Thanks to exhibithealth.com for the great image.

Can Mutants Become “Normal”?

If you’re a mutant (like me) then you’ll always be a mutant, but it doesn’t have to matter. Essentially as long as you’re getting enough of the active form of folate then the mutation doesn’t have to matter.  If you aren’t, then it matters a lot.

The bottom line is MTHFR C677T mutations don’t have to mean anything at all as long as you supplement and have a good diet (here’s an article about a folate-rich diet for MTHFR mutants) I always suggest taking a little more care with yourself too.  There are known health risks for things like clotting, fertility and cancers so it makes sense to take some precautions.  Eat your fiber, do your exercises, get your sleep and generally treat yourself with high regard – shouldn’t we all anyway?



The Best Plan for Natural Heart Health

Heart health is one of those things that we all know we should be taking care of, but don’t necessarily think about day to day until that horrible moment in the doctor’s office when you find out something is already wrong. That is not the best moment to be unprepared for. Maintaining natural heart health should be a priority for everyone, but deserves extra attention if there is heart disease in your family or if you have any contributing risk factors such as metabolic syndrome, MTHFR mutation, overweight, pre-diabetes or diabetes, or have an inflammatory disease. The great news is that a good plan for natural heart health is also a good plan for human health and will help you to become and stay healthy and vital in general and keep you feeling great into your later years. If you’re not sure about your heart disease risk, your Framingham Risk Score is the best way to find out how you stack up.

Key Elements for Heart Health:

Get Active

  • At least 20 active minutes every day this doesn’t have to be exercise, but you have to be moving! We’re all desk jockeys, so it’s important to remember that your body isn’t built for that. Lately I’m into doing these fabulous retro-90s 8 minute workout series – partly for the greatness of the workout and partly for the ridiculousness of the spandex. I’ll put the “8 minute Abs” right here, but have no fear. There are also 8 minute buns, legs, arms, and even 8 minute stretch.  Each one is just as awesome as the last. You’ll totally thank me for this:

  • Something that gets your heart rate up three times a week for 45+ minutes. If you’re a gym person, that’s awesome but I prefer to get outside and walk, jog, swim, dance, bike, kayak, toss a frisbee around, or generally do something fun. Besides taking care of my heart health gives me an excuse to do something fun three times a week! I get to legitimately put “dance” or “hike” or “kayak” on my calendar without guilt.




Natural Heart Health Diet

  • Balanced meals and snacks with higher protein, moderate carbohydrates and moderate fat. I like the zone diet which is 40/30/30, meaning 40% protein, 30% carbs and 30% good fats. The Mediterranean diet is also proven for heart health – this one focuses on lots of healthy veggies and fruits, good fats and proteins from nuts and olives and moderate lean meats and fish. Make sure fats are balanced between saturated (solid at room temp like meat and butter fat) and unsaturated (liquid at room temp).  Also minimize your sugar intake as much as possible.
  • Paleo and primal diet is great for so many reasons and it’s very popular right now, but it actually isn’t the best choice for your heart simply because the emphasis on protein, which usually ends up being meat protein, is higher than the average person needs.  If you’re an athlete, paleo is awesome but if you’re just kind of a normal person then this amount of animal protein can be more risky for your heart. It’s a great diet, just not perfect for this.
  • High fiber! This independently reduces the risk of death from heart causes as well as from cancer. At least 30 grams per day from your fruits, veggies and whole grains.
  • Ditch the processed foods – whole foods are the only way to go.
  • Reduce your total calorie intake. In developed countries, we tend to chronically overeat – for most people 2500 calories is enough, and for many it’s too much. Reduced calorie diets reduce the risk of death from all causes and are considered an “anti-aging” therapy.

Get Your Omega-3s (And Reduce Your Inflammation)

  • Inflammation is proving to be one of the biggest factors in heart health – along with every other type of health you have.
  • Fish oil improves heart health, reduces inflammation, stabilizes mood and reduces your risk of death from all causes. No worries if you’re not into fish, there are plenty of vegetarian options to supplement the essential omega-3 oils that we’re looking for.  Flax, hemp or mixed seed oils are great.  The emphasis should be on a mixed spectrum of beneficial fats but especially EPA and DHA.
  • There is a prescription fish oil but studies haven’t shown any difference between it and the over the counter fish oils.
  • 1500 to 2500 mg omega-3 per day, 5 days per week (I’m a huge fan of weekends off vitamins).

Magnesium

  • Magnesium relaxes smooth, skeletal and cardiac muscle and helps improve blood flow to heart muscle and can help those who suffer from chest pains and anxiety.
  • For natural heart health Magnesium Taurate is best if the heart muscle is weak and Magnesium Glycinate is best if there is a high-stress component. Here’s more detail about magnesium.

Support Your Nitric Oxide

  • Nitric oxide is the main molecule that your body uses to help open your blood vessels to allow smooth, easy blood flow when you need it.  It is one of the most important things your body does to keep circulation going to the areas that need it.  This makes it hugely important for your heart health.
  • The amino acid arginine is one of the main building block for nitric oxide, so 1000 mg of arginine on an empty stomach twice a day will help to open up those blood vessels – it’s great to take before a workout. For even greater results use sustained release arginine (Perfusia) which opens blood vessels and increases blood flow dramatically. The biggest issue with arginine supplements is that arginine is also the preferred food of the herpes virus and can cause outbreaks if you’ve already got the virus.
  • If arginine isn’t an option for you then boosting your nitric oxide can happen through lots and lots of dark green leafy veggies – especially beet greens, and also beets, beet juice or concentrated beet crystals in general. In fact because of this effect beets are the new performance enhancers for elite athletes because they help them legally boost circulation in key moments.

Stress Reduction

  • Because it’s just that easy to reduce stress.  Ha! I wish.  Still, reducing stress is very important – the most common time for heart attacks is Monday morning at 8 a.m. – no joke.
  • Meditation, yoga, laughter, whatever makes you happy
  • Working over 45 hours a week is not reducing your stress (just a hint and a reminder to myself too.)

    Reducing your stress will boost your natural heart health. Just take it from this frog. Also - the frog is from visboo and the quote was added by Amanda Hurt.

    Reducing your stress will boost your natural heart health. Just take it from this frog. Also – the frog is from visboo and the quote was added by Amanda Hurt. At least I think that’s how it all went down – so near as I can follow the interwebs.

Lose Weight if You Need To

  • Extra pounds mean extra stress on your heart, circulatory system, metabolism, hormones and antioxidants. In fact, for every pound of fat you lose your body can eliminate a MILE of blood vessels. Obviously losing a mile of unnecessary blood vessels is probably going to help with natural heart health.
  • Losing even 10 pounds can help lower your cholesterol between 7 and 10%.
  • Maintaining healthy body weight also reduces risk of death from other conditions such as diabetes, stroke, heart failure and some cancers.

An Aspirin A Day?

  • 81 mg baby aspirin has been suggested for primary prevention of heart attack and stroke and more recently some cancers.  It is still suggested by many doctors as an early therapy for heart disease and even many of the major health organizations.
  • Research about the effectiveness of aspirin is unclear – a recent meta-analysis published in PLoS One shows that there is an overall reduced risk of heart attack and reduced cancer mortality but an increased risk of gastrointestinal bleeds, and hemorrhagic stroke. Talk with your doctor about this one, and maybe bring a copy of the full text of this research.

Reduce Your Blood Pressure

  • By any means necessary.  Having high blood pressure is one of the biggest risk factors and everything we’ve talked about so far will help. If it isn’t enough, then try supplements or talk with your doctor about pharmaceuticals.
  • Even if you don’t like the idea of taking a prescription (it’s not natural after all), it’s still better to use a prescription short-term while you work on other things that might raise your blood pressure (like MTHFR, weight, stress levels, poor sleep, chronic dehydration) than it is to leave it elevated.  Once things are under control you can quit the medication.

Check your MTHFR Status

  • MTHFR is a genetic pathway that helps you to activate folic acid, which then helps you to keep levels of inflammation down and make nitric oxide effectively so it’s all tangled up in heart health.  If you’re not sure what the heck I’m talking about, you can read more about MTHFR in general here, and if you kind of think you  might be a mutant (like me) then check here.
  • If your doctor gives you a blank look when you ask them about MTHFR testing, which happens sadly often, then a great way to do it is to order a 23andme test kit to test your own genes (you also get to find out what percentage neanderthal you are, which is pretty awesome).  The awesome folks over at 23andMe got slapped by the FDA for coming too close to giving health advice, so now you have to run your results from the full test through the methylation analysis at Genetic Genie. Then the real fun begins!  MTHFR is ridiculously complicated, so it can help to work with someone but start here to find out the right dose of methylated folic acid for you (this is the active form that you can’t make if you don’t methylate properly).

Hang Out With Some Trees

Natural heart health is essentially the same as natural human health so start today.  You don’t have to do everything all at once and suddenly be the amazing vice-free human, just make small steps forward and keep at them.  If it takes you a year to change your diet, then it takes you a year.  Just as long as you keep it changed that was a year well spent. None of this has to happen overnight unless you’ve just been lucky enough to survive a heart attack, in which case you do have to do everything at once to make sure number 2 doesn’t get you.  For most people though, change can be gradual and easy.  Make sure you are working with a physician if you have high blood pressure, abnormal blood clotting, a strong family history of heart disease, or are having chest pains (and it’s kind of a good idea in general).