What's the Big Deal about Methylation?! Update of the popular MTHFR blog post...

UPDATE OF POPULAR MTHFR BLOG POST

Do you have a genetic defect in the MTHFR gene??

Maybe you've have a family history of heart attack or stroke... maybe you've suffered through multiple miscarriages.  Or maybe you struggle with chronic migraine headaches or irritible bowel syndrome or depression.  Perhaps your child or a sibling has autism.  What do all these things have in common?  Well, these are just some of the conditions liked to a faulty enzyme called MTHFR.

What's up with MTHFR?

MTHFR stands for methyl-tetrahydrofolate reductase, an enzyme that is responsible for the process of methylation in every cell in your body.  MTHFR is a common genetic variant that causes this key enzyme in the body to function at a lower than normal rate.  This can lead to a variety of medical problems.  Although there are over fifty known MTHFR variants, the two primary ones are called C677T and A1298.  Your doctor can order a blood test to determine if you have these genetic variants. Better yet, you can order a complete genetic profile yourself through 23andMe.

What's the big deal about methylation?

Methylation is a core process that occurs in all cells to help your body make biochemical conversions.  When people with genetic mutations is MTHFR are exposed to toxins, they have a harder time getting rid of them which can cause some very serious illnesses.  The methylation process is responsible for:

• Cellular Repair: synthesis of nucleic acids, production and repair of DNA and mRNA
• Detoxification and Neurotransmistter  Production:  interconversion of amino acids
• Healthy Immune System Function:  formation and maturation of red blood cells, white blood cells & platelet production

The 677T variant is most commonly associated  with early heart disease and stroke and the 1298C variant with a variety chronic illnesses, but either anomaly can cause a wide variety of health problems.  The MTHFR anomaly is reported out as heterozygous or homozygous.  If you are heterozygous that means you have one affected gene and one normal gene.  Your enzyme activity will run at about 60% efficiency compared to a normal.

If you are homozygous or have 2 abnormal copies, then enzyme efficiency drops down to 10% to 20% of normal, which can be very serious.   The worst combination is 677T/1298C in which you are heterozygous to both anomalies.  Many chronic illnesses are linked to this anomaly.   Fibromyalgia, irritable bowel syndrome, migraines, chemical sensitivity, frequent miscarriage and frequent blood clots are all conditions associated with MTHFR anomaly.  For a great diagram of more methylation related health problems, check this out:

MTHFR Related Health Problems 

Glutathione is the body's primary antioxidant and detoxifier.  One of the ways that MTHFR gene mutation can make you susceptible to illness is by lowering your ability to make glutathione.    People with MTHFR anomalies usually have low glutathione, which makes them more susceptible to stress and less tolerant to toxic exposures.  Accumulation of toxins in the body and increased oxidative stress, which also leads to premature aging.

Some conditions that may be associated with MTHFR gene mutations

• Autism
• Addictions: smoking, drugs, alcohol
• Down’s syndrome
• Frequent miscarriages
• Male and female infertility
• Pulmonary embolism and other blood clots
• Depression and anxiety
• Schizophrenia
• Bipolar disorder
• Fibromyalgia
• Chronic Fatigue Syndrome
• Chemical Sensitivity
• Parkinson’s disease
• Irritable Bowel Syndrome  
• Stroke
• Spina bifida
• Migraines
• Hyperhomocysteinemia
• Breast cancer
• Atherosclerosis
• Alzheimer’s
• Multiple Sclerosis
• Myocardial Infarction (Heart Attack)
• Methotrexate Toxicity
• Nitrous Oxide Toxicity

 

Treatment for MTHFR

Fortunately, you can easily be tested for the MTHFR mutation.  If you find out that you have one or more of the gene mutations, you can supplement with methyl-folate  and methyl B12, the active forms of these B vitamins.   You can also supplement with liposomal or acetyl-glutathione, the end product of the pathway.  Glutathione is poorly absorbed so either the liposomal form or a precursor, called n-acetylcysteine (NAC) may be used. Some of my favorites are Thorne Research Methyl Guard Plus and 5-MTHF 1mg and 5mg.

There are prescription medicines, that also contain methyl-folate: Deplin, MetanX, CerefolinNAC are a few.   Methyl B12 can also be given as shots, nasal sprays, and sublingually.  The intramuscular shots are by far the most effective method and must be prescribed by your physician.  The choice of nutrients will vary from patient to patient and should be done under a doctor's supervision.  There is a bell-shaped optimal curve so you may not feel well with too much or too little of the appropriate supplements.   Other B vitamins, such as riboflavin and vitamin B6 also play an important role.  As you may have surmised, this can be quite complex and I suggest you find a functional medicine trained physician to help you sort through your needs for the different nutrients if you have a chronic health condition related to the gene mutations.  It is not uncommon for patients with these genetic polymorphism's to be very sensitive to supplementation.

Patients who I recommend be screened for MTHFR mutations:

• Mood disorders: depression, anxiety, irritability, mood swings, bipolar
• Infants and children of parents with MTHFR mutations
• Family members related to someone with MTHFR mutations
• Infertility and Pre-conception care: test both man and woman
• Elevated folate (not processing to active 5-MTHF due to inability to methylate)
• Elevated homocysteine (due to low active 5-MTHF and methylcobalamin)
• Elevated s-adenosylhomocysteine (due to low active 5-MTHF and methylcobalamin)
• Elevated serum cobalamin (due to inability to methylate cyanocobalamin to methylcobalamin)
• Elevated methylmalonic acid (due to methylcobalamin deficiency)
• Patients with syndromes: IBS, multiple chemical sensitivity, fibromyalgia, Down syndrome, chronic fatigue syndrome
• Neurological disorders: Multiple sclerosis, Autism, Alzheimer’s, Epilepsy, Parkinson's
• Cancer: family history of cancer or undergoing cancer treatment
• Cervical dysplasia
• Cardiovascular risk: family history of strokes, embolisms, heart attacks, clots, hypertension
• Birth defects: cleft palate, tetralogy of Fallot, spinal bifida, midline defects
• Drug sensitivities: methotrexate, anti-seizure meds, nitrous oxide, anesthesia

If you are interested in knowing more about your genes, the 23andme gene test will be the best $99 investment you've ever spent !

Check out Health Tips for Dealing with MTHFR Gene mutations...

More reading

23andMe Gene Test
Holistic Primary Care 
Genetics Home Reference
Molecular Biology of MTHFR
Genetics of Homocysteine Metabolism
Homocysteine and MTHFR mutation
LiveWello Gene app

Tips for Dealing with Herxheimer or Die-off Reactions

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Dealing With Yeast Die-Off (Herxheimer) Reactions

  

Yeast overgrowth can happen in response to improper diet, poor immunity, difficulties in digestion and antibiotic use. Poorly digested food can lead to putrefaction (rotting) and encourages the growth of organisms.  Antibiotic use destroys the normal balance of gut flora and leaves an open field for bad bacteria and fungi to move in.  Hormones and steroids can make this condition worse, too.  Most importantly, over-consumption of simple sugars & refined carbohydrates will feed the yeast.  If the immune system is weakened or there are not enough probiotic ("good" bacteria) to combat the yeast, then it begins to grow unchecked and cause symptoms, such as "leaky gut".

In this blog, I am addressing specific patients who are being treated for fungal dysbiosis (yeast overgrowth), who may experience a worsening of their condition after starting a program for yeast control. This may be very unsettling & discouraging if it is not understood.  It must be addressed effectively in order to avoid worsening symptoms. Here are some strategies to minimize the chances of suffering unnecessarily from a Herxheimer (die-off) reaction.

Common Symptoms of yeast die-off include:

Fatigue, brain fog, gastrointestinal distress such as nausea, gas, bloating, diarrhea or constipation, low grade fever, headache, sore throat, body itch, muscle and joint soreness or pain, flu-like symptoms. Other symptoms include: lethargy, intense sweet cravings, rashes, irritability, joint stuffiness, or muscle pain. In susceptible individuals with pre-existing neurological symptoms such as hyperactivity, irritability, tantrums, and difficulty concentrating, their symptoms may temporarily intensify.

Yeast die-off reactions are not necessarily a sign that yeast treatment is succeeding. It may be an indication that yeast cells are dying in large numbers, and an indicator of the body's toxic overload. At that point, more poisons are being released than the body can adequately cope with at one time and may be a sign the system's elimination pathways (liver, kidneys, & bowels) are overburdened or blocked (as in constipation or liver congestion)

If properly undertaken, treatment for yeast related health problems should not lead to severe yeast die-off reactions.  Patients with elevated heavy metal levels may more problems with “die-off” symptoms

Strategies to minimize discomfort & shorten duration of die-off reactions

·       Reduce the dose of anti-fungals: Some patients may have to stop altogether for a few days. Dr Jill will generally start doses slowly and increasing them over time to help you deal with the possible die-off symptoms

·       Enzymes: Adding enzymes with meals may improve the digestion of foods and limit putrefactive short chain fatty acids with enzymes.  Use pancreatic enzymes, NOT fungal or plant based enzymes.

·       Stay hydrated:  Dr Jill recommend 4-6 fluid ounces of warm water every forty-five minutes, throughout the day.  Mineral water may help, too!

·       Get your sleep:  It is imperative to rest when experiencing yeast die-off reactions – 8-10 hours per night is essential.

·       Neutralize toxins:  There are ways to neutralize fungal toxins. Dr. Jill may recommend molybdenum, biotin, pantethine or liver support to accomplish this.  Activated charcoal may also help.

·       Alkalinize:  You may buffer the toxins by taking alkalizing agents immediately upon experiencing die-off symptoms. Such products as AlkaSeltzer Gold. Drinking mineral water may also help.

·       Antioxidants:  Provide extra antioxidants to quench the oxidative reactions created by the toxins.  Dr Jilll may prescribe vitamin C, Vitamin E or A, alpha lipoic acid or N-acetylcysteine.

·       Sauna & baths:  If you have access to a sauna, begin slowly (15 minutes per session) scrub all skin surfaces with a stiff brush and shower immediately afterwards. Another helpful detox regimen is Epsom salt baths – use 3-4 cups in hot bath and soak for 20min every night.

·       Keep your bowels moving:  You must address any issues with bowel elimination if you have constipation – if you are not eliminating, you will reabsorb any die-off toxins being released! 

More remedies for constipation:

·       Use magnesium citrate 500-1000mg daily or until normal, soft bowel movements 1 or more X daily.  You may also add Ascorbic Acid 5-10grams daily to bowel tolerance.

·       Start every morning with a tall glass of warm water.  8 oz of coffee may also be helpful.

·       Try a few tablespoons of extra virgin olive oil, several times daily on an empty stomach.

·       Mix 2 TBSP of ground flax or chia seed into water & stir , let sit for 10minutes, stir & drink on an empty stomach.

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Constipation Trouble? Here's 5 Tips to Get You Going...

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Here's 5 Simple Tips to Keep You Going...

Constipation is one of those topics few like to talk about. If you've suffered from this problem, though, you know it can be both painful and frustrating.

Almost everyone gets constipated at some time during his or her life. It affects approximately 2% of the population.  Women and the elderly are more commonly affected.

You are considered constipated if you have two or more of the following for at least 3 months:

• Straining during a bowel movement more than one-quarter of the time
• Hard stools more than one-quarter of the time
• Incomplete evacuation more than one-quarter of the time
• Averaging less than one normal formed, but soft stool daily

Common causes of constipation include:

• Inadequate water intake
• Inadequate fiber in the diet
• Disruption of regular diet or routine
• Traveling
• Inadequate exercise or immobility
• Eating large amounts of dairy products
• Stress
• Resisting the urge to have a bowel movement too frequently
• Overuse of laxatives (stool softeners) 
• Low thyroid hormone
• Neurological conditions, like Parkinson's disease or multiple sclerosis
• Too much calcium in supplements or antacids
• Certain medications, anti-depressants, pain killers, and iron supplements
• Depression
• Eating disorders
• Irritable bowel syndrome
• Pregnancy
• Colon Cancer

If you simply treat the causes and the symptoms go away!

Here are five simple natural suggestions to "keep you going":

1. Probiotics - When the wrong bacteria or yeast gain control of the bowels, they slow things down to ferment foods just how they like them. A good quality probiotic like, lactobaccilus or bifidobacter can help change that. You'll want to take a dairy-free brand with at least 25 billion cfu's per capsule daily
2. Dehydration - Without enough fluids to move things through the intestinal tract, the feces becomes hard and your digestion slows way down. Drinking a large glass of water upon waking improves bowel movements in most cases. Drinking a large glass of water few hours of the day can also alleviate IBS symptoms.
3. Fiber - For both constipation and IBS, dietary fiber is the first line of intervention for symptom relief. I usually recommend patients add 2 TBSP of ground flax seed or chia to their breakfast or smoothie.  Another way is to use psyllium caps or powder. 
4. Vitamin C - One symptom of vitamin C deficiency is constipation. Taking vitamin C in amounts just below bowel tolerance (gas, bloating or diarrhea) can definitely improve bowel movements and regularity. Start slow with 3000 mg spread throughout the day and every 2-3 days add another 1,000 mg to the regimen. When you reach bowel tolerance and stools loosen up, back off a little and maintain the dose that works for you
5. Magnesium - if patients I see are complaining of difficulty with constipation, the first thing I usually recommend is adding magnesium citrate at bedtime.  Many patients sleep better, have less muscle pain and bowel function dramatically improves with a little magnesium.  Doses typically range from 300-600mg but may go upwards of 1000mg daily.  

Still no relief?!  If the five suggestions above don't relieve your constipation, then you might have food sensitivities...  A common symptom of food sensitivity is constipation. Studies show that milk can cause constipation and a more recent study also implicates gluten. Constipation is more likely to occur in children fed gluten at at less than six months of age with a 35% increased risk of constipation.  You might try doing a three week elimination diet avoiding the common culprits:  gluten, dairy, sugar, and soy. 

If you have slow moving bowels, bowel pain or both, find the cause and fix it! Treating the symptoms only hides the causes, allowing your problems to grow into bigger problems.

FODMAPs?! The Diet That May Eliminate Your IBS Symptoms!

Are you looking for relief from your IBS symptoms?

Symptoms of Irritable Bowel Syndrome include abdominal bloating and distension, excess wind (flatulence), abdominal pain, nausea, changes in bowel habits (diarrhea, constipation, or a combination of both), and other gastrointestinal symptoms.

What are the FODMAPs?

FODMAPs are found in the foods we eat. FODMAPs is an acronym for:

• Fermentable
• Oligosaccharides (eg. Fructans and Galactans)
• Disaccharides (eg. Lactose)Monosaccharides (eg. excess Fructose)
• Polyols (eg. Sorbitol, Mannitol, Maltitol, Xylitol and Isomalt)

This is a collection of molecules found in food, that can be poorly absorbed by some people. When the molecules are poorly absorbed in the small intestine of the digestive tract, these molecules then continue along their journey along the digestive tract, arriving at the large intestine, where they act as a food source to the bacteria that live there normally. The bacteria then digest/ferment these foods and can cause symptoms of Irritable Bowel Syndrome.

Where are FODMAPs found?

• Excess Fructose: Honey, Apples, Mango, Pear, Watermelon, High Fructose Corn Syrup, Corn Syrup Solids
• Fructans: Artichokes (Globe), Artichokes(Jerusalem), Asparagus, Beetroot, Chicory, Dandelion leaves, Garlic (in large amounts), Leek, Onion (brown, white, Spanish, onion powder), Raddicio lettuce, Spring Onion (white part), Wheat (in large amounts), Rye (in large amounts), Inulin, Fructo-oligosaccharides.
• Lactose: Milk, icecream, custard, dairy desserts, condensed and evaporated milk, milk powder, yoghurt, margarine, soft unripened cheeses (eg. ricotta, cottage, cream, marscarpone).
• Galacto-Oligosaccharides (GOS): Legume beans (eg. baked beans, kidney beans, bortolotti beans), Lentils, Chickpeas
• Polyols: Apples, Apricots, Avocado, Cherries, Longon, Lychee, Nectarines, Pears , Plums, Prunes, Mushrooms, Sorbitol (420), mannitol (421), xylitol (967), maltitol (965) and Isomalt (953).

The most common FODMAP is fructose!

What is fructose?

Fructose is a monosaccharide, or single sugar. It is found in three main forms in the diet as:

• fructose in fruits, honey and some root vegetables
• part of the disaccharide, or double sugar, sucrose. Sucrose is made up of glucose and fructose.
• Sucrose is also known as table sugar.
• fructans in some vegetables and wheat. Fructans are short chains of fructose. They are also called inulins and fructo-oligosaccharides.

Fructose is the sweetest of all naturally occurring carbohydrates. For this reason it is often added as a sweetening ingredient in prepared foods. Since it is sweeter than table sugar, smaller amounts of fructose are needed to get the same sweetness.


How do I go on the FODMAPs diet?

During your elimination trial, it is recommended that you eliminate all FODMAPs either significantly or entirely. Most patients will begin to feel significantly better within a few hours and a few days, but will take up to two weeks to feel fully healthy. A minority of patients have reported that it took up to three months to fully recover. After recovery, you can begin to gradually reintroduce foods using the steps outlined at the end of this article.

Many IBS sufferers with generally mild symptoms will find that a general reduction of fructose intake alone significantly relieves them of their symptoms. Other individuals will find that they must significantly reduce their intake of all FODMAPs to experience relief. You may find over time that eating certain FODMAPs does not bother you.

Finally, it should be noted that fructose – the ubiquitous simple sugar – is often allowed in “safe foods” if the food also contains a glucose-to-fructose ratio greater than one. This is because research shows that ingesting glucose at the same time as fructose (and in the same quantities as fructose) eases fructose absorption.

Is it dangerous to limit fructose intake?

In short: no. While carbohydrates are an essential source of energy, refined sugars are anything but and current research shows that fructose may be best ingested in strict moderation.

Further, some sources report that a modern diet contains upwards of ten times the amount of sugar humans ingested for much of evolution. This may help to explain why fructose malabsorption is found in up to 40% of inhabitants of western countries. You will still be ingesting a significant level of glucose and other carbohydrates. Overall, limiting your fructose intake will likely be beneficial to your health. But when in doubt, listen to your body (and, of course, doctor). It is also not inherently dangerous to limit other FODMAPs, but missing out on whole food groups could easily lead to a diet missing in nutrients and lacking in vitamins.

Which foods contain FODMAPs?

The best way to determine the fructose content of a given food is to use publicly available USDA data.

To save you some time, and to bring your attention to foods which contain non-fructose FODMAPs, the list below names some foods that you will definitely want to avoid at least initially. .

Fruits

Most fruits which are excluded are excluded due to excessive fructose content, or greater than a 1:1 Fructose:Glucose ratio. Also, some contain Polyols.

• Apples
• Apricots
• Cherries
• Mango
• Pears
• Nectarines
• Peaches
• Pears
• Plums and prunes
• Watermelon
• High concentration of fructose from canned fruit, dried fruit or fruit juice

Grains

• Rye
• Wheat

Lactose-Containing Foods

• Custard
• Ice cream
• Margarine
• Milk (cow, goat, sheep)
• Evaporated milk
• Condensed milk
• Milk powder
• Soft cheese, including cottage cheese and ricotta
• Yogurt
• Greek yogurt

Legumes

• Many legumes contain Galacto-Oligosaccharides (GOS).
• Baked beans
• Chickpeas
• Lentils
• Kidney beans

Sweeteners

• Sweeteners which end in -ol are excluded because they are fermentable polyols.
• Fructose
• High fructose corn syrup
• It should be noted that HFCS actually only contains marginally more fructose than glucose as compared to refined sucrose. It is included in this list only because it was found on another list (better safe than sorry), and because it still has a F:G ratio greater than 1. The accuracy of this entry will be checked soon for validity.
• Corn syrup solids
• See above
• Palm sugar
• Honey
• Agave nectar
• Isomalt
• Maltitol
• Mannitol
• Sorbitol
• Xylitol

Vegetables

• Vegetables may be on this list for containing fructans.
• Artichokes
• Asparagus
• Avocado
• Beets
• Broccoli
• Brussel sprouts
• Cabbage
• Cauliflower
• Garlic
• Garlic is possibly okay to consume, but should not be ingested in large quantities.
• Fennel
• Leeks
• Mushrooms
• Okra
• Onions
• Onions have recently been reported to be especially troublesome. It is best to completely avoid them.
• Peas
• Radiccio lettuce
• Scallions (white parts)
• Shallots
• Sugar snap peas
• Snow peas

So, what’s safe to eat?
It’s best to obtain your calories principally from a source that is indisputably fodmap-friendly (such as rice or meat). In moderation, however, the following foods are safe to eat on a low-FODMAP diet.

Fruits

• Banana
• Blueberry
• Grapefruit
• Grapes
• Honeydew melon
• Kiwi
• Lemon
• Lime
• Mandarine oranges
• Orange
• Raspberry
• Strawberry

Sweeteners

• Artificial sweeteners that do not end in -ol
• Glucose
• Maple syrup
• Sugar (sucrose)

Lactose Alternatives 

• Butter
• Hard cheeses
• Brie (exceptional cheese)
• Camembert (exceptional cheese)
• Lactose-free products, such as lactose-free ice cream and yogurt
• Gelato
• Rice milk
• Sorbet

Vegetables

• Bok choy
• Carrots
• Celery
• Corn
• Eggplant
• Green beans
• Lettuce
• Parsnip
• Scallions (green parts only)
• Tomato
• Reintroducing foods/Moving beyond the elimination phase

Once you are symptom-free, you may attempt to reintroduce foods in order to determine exactly what was causing your symptoms. There are really no established guidelines on how to best do this – it varies from individual to individual. Key concepts, however, follow:

1. Write it down! Be scientific. Keep a food diary. Your future self will thank you.
2. Only reintroduce one food at a time.
3. Wait ~72 hours for symptoms to reappear before moving on to the next food