What are the Effects of MTHFR?

MTHFR mutational effects include:MTHFR-DNA-Effects-Baucom-Institute

  • chronic low glutathione
  • leaky gut and food allergies
  • chronic viruses
  • high serum B12 levels
  • low serotonin and melatonin
  • high serum ferritin and HFE mutation
  • Thalassemia and hepatorenal failure
  • FSG and renal failure
  • autoimmunity frequency in women
  • chronic dysbiosis/chronic yeast infections
  • estrogen dominant cancers
  • subtype and elevated homocysteine
  • ADD/bipolar/PMS/Chronic Fatigue/Fibromylagia
  • tongue/fingernails/thin hair
  • vericose veins/spider veins
  • hypercoagulopathy/infertility
  • elevated testosterone in men/PCOS in women
  • acne, fibroids, Endometriosis, Menometorrhagia
  • depression when on OCPs
  • exacerbation of menopausal symptoms on BHRT
  • elevated uric acid and elevated ammonia levels
  • gut barrier and dysbiosis
  • CANCER
  • estrogen dominance and obesity (estrogens effects on insulin and the insulin receptor and adiponectin)

 

A1298C Variant

A1298C – a mutation from adenine to cytosine at position 1298 within the gene. These variants lead to amino acid differences in the protein that reduces its ability to function.

1298:genes_MTHFR_baucom_institute

  • AA-normal homozygous
  • AC or CC – one or two variant copies
  • about 30% of the population
  • not associated with increased risk
  • associated with increased risk if found together with a 677 variant

Severe MTHFR deficiency:

  • Severe MTHFR deficiency is rare (about 50 cases worldwide) and caused by mutations resulting in 0-20% residual enzyme activity.
  • Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria. Hum Mutat 15 (3): 280-7
  • These patients exhibit:
  1. developmental delay,
  2. motor and gait dysfunction,
  3. seizures,
  4. neurological impairment and
  5. have extremely high levels of homocysteine in their plasma and urine as well as low to normal plasma methionine levels.

Epigenetic_mechanisms_MTHFR_methylationBottom line:  If one leads a lifestyle which is unhealthy (smoking, high stress, toxic exposures) and consumes an unhealthy diet (refined carbs, processed meats, saturated fats), having a heterozygous A1298C mutation may contribute to cardiovascular disease, depression, fibromyalgia and others.

Possible symptoms associated with A1298C MTHFR mutations:

  • hypertension
  • delayed speech
  • muscle pain
  • insomnia
  • irritable bowel syndrome
  • fibromyalgia
  • chronic fatigue syndrome
  • hand tremor
  • memory loss
  • headaches
  • brain fog

Possible signs associated with A1298C MTHFR Mutations:

  • elevated ammonia levels
  • decreased dopamine
  • decrease serotonin
  • decreased epinephrine and norepinephrine
  • decreased nitric oxide
  • elevated blood pressure
  • muscle tenderness
  • ulcers
  • pre-eclampsia

Possible conditions associated with A1298C MTHFR mutations:

  • fibromyalgia
  • chronic fatigue syndrome
  • autism
  • depression
  • insomnia
  • ADD/ADHD
  • irritable bowel syndrome
  • inflammatory bowel syndrome
  • erectile dysfunction
  • migraine
  • Raynaud’s
  • cancer
  • Alzheimer’s
  • Parkinson’s
  • recurrent miscarriages

Frequency of MTHFR Polymorphisms

30-40% of Americans are found to have either a single or double polymorphism of either C677T or A1298C.

  • There is ethnic variability in the frequency of the T allel-frequency in Mediterranean/Hispanics>Caucasians>Africans/African-Americans (Worldwide distribution of a common methylenetetrahydrofolate reductase mutation. Am J Hum Genet 62 (5): 1258-60)
  • Higher frequency in chronic disease: Autoimmune diseases, diseases of the gut, Fibromyalgia, Chronic Fatigue, Chronic Retroviruses, Cancer, Hormone dysregulation, Mood issues, Cardiometabolic patients.

C667Tpolymorphtandem-baucom-institute

  • There is a mutation from cytosine to adenine at position 677 within the gene.
  • Possible genotypes?
  • 677-CC, CT, or TT
  • CC-homozygous normal
  • About 45% of the population
  • No increased risk associate
  • CT-on variant copy
  • About 45% of the population
  • Some reduced enzymatic activity, alone not associated with increased risk
  • TT-two variant copies
  • About 10% of the population
  • Increased risk for elevated homocysteine level and associated complications

Methylation

Methylation can turn genes on or off.

Some nutrients affect the methylation process quite dramatically. Methylating factors like B12, B6, MD, Zinc monitor specific methylation reactions.

Methylation_DNA_Baucom_InstituteMTHFR

What is MTHFR?

  • Methylenehydrofolatereductase is an enzyme responsible for converting 5, 10- methylenetetrahydrofolate to the product: 5-methytetrahydrofolate (5-MTHF)
  • Certain mutations in the gene coding for MTHFR produce an enzyme that has reduced activity
  • Reduced activity can lead to elevated levels of homocysteine especially when folate levels are low
  • MTHRF genotyping can provide information about potential causes of elevated homocysteine and how to address it
  • 5-methyltetrahydrofolate is involved in the metabolism of folate and homocysteine
  • The product of the reaction catalyzed by MTHFR converts homocysteine (a potentially toxic amino acid) to methionine (a useful and necessary amino acid)

What Does Gluten Do?

Rose Family Fall 2013 074Maddy’s story begins like so many others – born into a middle class family in the midwest, she has had the privileges of most teenagers her age and is now a freshman Criminal Justice major at Olivet Nazarene University in Bourbonnais, Illinois.

Maddy has found that eating is a rather difficult thing, especially at college, even though they have a gluten-free menu, because of all the temptations on the regular menu. She has a gluten intolerance, on the extreme end. It makes it hard to take care of herself away from home, yet she’s working hard to do it, realizing that eating gluten is just not worth the pain.

Maddy says, “First off, you can tell as you are eating it you start to feel full but you aren’t sure if you are bloated or if you are actually getting full. After you’ve eaten, about only 30 minutes later, you start to get indigestion. You get really bad issues that come with extreme gastrointestinal stress, extreme nausea, heavy fatigue, you become moody and irritable and it can even result in vomiting. You also have energy depletion and headaches that include throbbing, making it hard to focus. Speaking of focus, your attention span is decreased, making it hard to work, study, pay attention in class, and go through daily activities that would normally not be an issue for you. You also feel heavy, muggy, miserable, and all around sickly. I also get hot and cold flashes sometimes – that’s when I know it’s really severe. It wasn’t until I talked to Dr. Baucom about my symptoms that I realized why I was having trouble every time I ate. She had me read various articles on gluten, making me realize I was on the extreme end of this issue.”

What is gluten? It is a protein that has been engineered as a component of wheat that provides the elastic qualities for baked goods. But the protein is also difficult to digest. And even a healthy intestine does not completely break gluten down. For those with celiac disease, the undigested gluten essentially causes the body’s immune system to lash out at itself, leading to malabsorption, bloating and diarrhea — the classic gastrointestinal symptoms — but also, at times, joint pain, skin rashes, etc.

Joseph A. Murray, a gastroenterologist at the Mayo Clinic in Rochester, Minnesota says of gluten-intolerance, “It truly has become more common.” Comparing blood samples from the 1950s to the 1990s, Murray found that young people today are nearly five times as likely to have celiac disease, for reasons he and others researchers cannot explain. And it’s on the rise not only in the U.S. but also in other places where the disease was once considered rare, like Mexico and India. “We don’t know where it’s going to end,” Murray says.

Mark Hyman, M.D. practicing physician and founder of The UltraWellness Center is a pioneer in functional medicine. He’s done some extensive study on the effects of gluten. He says that a review paper in The New England Journal of Medicine listed 55 “diseases” that can be caused by eating gluten. (iv) These include osteoporosis, irritable bowel disease, inflammatory bowel disease, anemia, cancer, fatigue, canker sores, (v) and rheumatoid arthritis, lupus, multiple sclerosis, and almost all other autoimmune diseases. Gluten is also linked to many psychiatric (vi) and neurological diseases, including anxiety, depression, (vii) schizophrenia, (viii) dementia, (ix) migraines, epilepsy, and neuropathy (nerve damage). (x) It has also been linked to autism.(ix)

Gluten sensitivity is actually an autoimmune disease that creates inflammation throughoutgluten-warning-baucom-institute the body, with wide-ranging effects across all organ systems including your brain, heart, joints, digestive tract, and more. It can be the single cause behind many different “diseases.” To correct these diseases, you need to treat the cause–which is often gluten sensitivity–not just the symptoms.

How can you know if you are gluten-intolerant? Try going off food that causes the symptoms – breads, pastas, sauces made with flour, chips, french fries, chocolate, anything with wheat or barley in it, etc. Even body and hair care products can have gluten and can be absorbed through the skin. See how you feel. If you have less symptoms like intestinal distress, bloating, etc. you know that gluten was at least a culprit. Most importantly seek a medical professional educated in restorative medicine or naturopathic education. Unfortunately, most MD’s are not aware nor educated on the effects of gluten, although society’s awareness is pushing the medical community to become more aware.

How do you relate to Maddy’s story? What symptoms cause you to think you may be gluten intolerant?

New Year, New You!

happy_healthy_restored_people_baucominstitute

It’s the new year! It’s 2014. A fresh start. A new beginning. At ANY age!

Can we actually reverse the aging process and restore our bodies to health or is all the talk about longevity and restorative medicine just a bunch of hype?

Most people are interested in knowing how to lengthen their life span and create a healthier, happier life at the same time. But the average person deals mostly in putting out fires like when symptoms arrive, going to the doctor and getting some medicine to deal with the ailment.

What if we got in front of the ol’ “8 ball”, so to speak, and became not only a “preventative health” society but a restorative one? Think of the disease prevention we would create in our world and the quality of life we would create!

There are now doctors becoming more interested in this type of medicine. In fact, there are more organizations of doctors that believe in not only holistic medicine but in restorative medicine which are becoming more prevalent. There are also organizations in which MD’s, ND’s, NMD’s, and DO’s are sitting in the same conferences and are collaborating on the idea of restorative medicine.

Disease is rampant and there doesn’t seem be any better answer in dealing with these diseases other than drug therapies, surgery and living out one’s life with the disease. Not any kind of quality of life at all.

No wonder doctors are turning to other answers.

According to AARM (Association for the Advancement of Restorative Medicine) says, “. . . the principle is to actually restore fundamental balance and not simply suppress, palliate, or otherwise superficially treat symptoms. Many endocrine disorders and chronic diseases have a limited possibility to be overcome by conventional approaches.  Restorative Medicine offers new scientific data that leads us not to conform or succumb but rather spearheading the rebirth of restorative health.”

“Chronic diseases have now eclipsed infectious diseases, and the old paradigm of focusing on cures is not working,” according to Harvard Medical student, Sandeep Kishore. He says instead of focusing on medications to treat disease, we should focus on causes and not just treat symptoms.

Dr. Michael Friedman, President of AARM, says “the goal [of restorative medicine] is to repair tissue degeneration, optimize cellular and metabolic function, and build organ health. In many cases, medications can be discontinued altogether over time as health and vitality are truly restored.”

What do you think about approaching your health from a more restorative perspective?