Showing posts with label methylation. Show all posts
Showing posts with label methylation. Show all posts

18 February 2014

Health Tips for Anyone with a MTHFR Gene Mutation...


If you haven't seen the popular blog on MTHFR Gene Mutations... What's the big deal about Methylation?, you might want to start by familiarizing yourself with this common genetic mutation that can affect everything from depression and anxiety to risk of heart attack or stroke.

In light of the amount of questions and comments I've gotten, it's about time I write a follow-up blog giving you some helpful hints in dealing with this common genetic SNP that can affect your health in so many various ways.


A little background to bring you up to speed on methylation...

First, I suggest going back to re-read the previous blog article before moving on. For a quick review.... let's define methylation.  Methylation is the act of a carbon and three hydrogens (namely a methyl group) attaching itself to an enzyme in your body. When this methyl group attaches to an enzyme, the enzyme performs a specific action. One thing you might not realize is that methylation is responsible for is the breakdown of histamine. A methyl group is made and then floats around until it finds a specific binding site. In this case, the methyl group binds to histamine. When a methyl group binds to histamine, histamine breaks apart and goes away.   Many patients who have one or more methylation SNPs, like MTHFR have a hard time breaking down histamine, which can wreak havoc on the body in many ways!

If you haven't been tested and want to find out if you have this common genetic mutation, you can ask your doctor to order MTHFR gene mutation testing through LabCorp.   Better yet you can order a genetic profile directly without a physician order online through 23andMe for only $99.

Key functions these donated methyl group are:


  • Protecting DNA and RNA.  If DNA is not protected it is susceptible to damage by viruses, bacteria, heavy metals, solvents and other environmental toxins. Over time if this damage becomes significant and could even result in cancer.
  • Reducing histamine levels (see this article)  Sometimes the common methyl-donor, SAMe can help reduce histamine levels.
  • Protecting cell membranes.    The methyl group donated by SAMe helps build phosphatidylcholine which then gets incorporated into the walls of all your cells.  If these cell membranes become damaged and weak, the cells become fragile and harmful things may enter the cell.  If they are unable to carry in useful nutrients, they will die. Excessive cell membrane damage can lead to serious medical conditions, such as multiple sclerosis.

What are some things I can do if I have the MTHFR gene mutation?

Here's ten tips for you!

  1. Avoid taking folic acid blocking or depleting drugs, such as birth control pills or Methyltrexate
  2. Avoid taking proton pump inhibitors, like Prilosec or Prevacid or antacids, like Tums, which may block essential Vitamin B12 absorption
  3. Have your homocysteine measured, which if elevated may indicate a problem with methylation or a deficiency of B12 or folate.  If your homocysteine is elevated, limit your intake of methionine-rich foods
  4. Avoid eating processed foods, many of which have added synthetic folic acid.  Instead eat whole foods with no added chemicals or preservatives.
  5. Get your daily intake of leafy greens, like spinach, kale, swiss chard or arugula, which are loaded with natural levels of folate that your body can more easily process.
  6. Eat hormone-free, grass-fed beef, organic pastured butter or ghee, and eggs from free-range, non-GMO fed chickens.  
  7. Remove any mercury amalgams with a trained biologic dentist.  Avoid aluminum exposure in antiperspirants or cookware.  Avoiding heavy metal or other toxic exposure is important.
  8. Make sure you supplementing with essential nutrients, like methyl-B12, methyl-folate, TMG, N-acetylcysteine, riboflavin, curcumin, fish oil, Vitamins C, D, E, and probiotics.  If you are double homozygous for MTHFR mutations, you should proceed very cautiously with methyl-B12 and methyl-folate supplementation as some people do not tolerate high doses.  Introduce nutrients one by one and watching for any adverse reactions.  Use extreme caution when supplementing with niacin, which can dampen methylation.
  9. Make time for gentle detox regimens several times per week.  These could include infared sauna, epsom salt baths, dry skin brushing, and regular exercise or sweating.
  10. If you have a known genetic mutation, share the information with parents, children and other family members and encourage them to be tested, too!  The easiest way is to order  through 23andMe for only $99 online.

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05 October 2013

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 !

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

13 August 2013

Is this gland taking you down? Sixteen Signs You Might Be Hypothyroid...


Photo courtesy of www.freedigitalphotos.net


Your thyroid plays a part in nearly every metabolic process and when the thyroid isn't working you won't feel well!  This small gland has an average weight of 16.4 grams in the adult. Shaped like a butterfly, it lies low on the front of the neck and below your Adam’s apple and in front of the windpipe. When the thyroid is its normal size, you can’t even feel it.

The thyroid secretes several hormones, collectively called thyroid hormones. The main hormone is thyroxine, also called T4, but there are others, including T3 and even lesser known T1 and T2.   It requires adequate selenium, iodine, zinc, B vitamins and antioxidants for optimal function.  Thyroid hormones act throughout the body, influencing metabolism, growth and development, and body temperature. During infancy and childhood, adequate thyroid hormone is crucial for brain development.  Unfortunately, the thyroid gland is uniquely sensitive to drugs and environmental chemicals which may affect proper function.

More than 10 percent of the general population in the United States, and 20 percent of women over the age of 60, have subclinical hypothyroidism. But only a small percentage of these people are being treated.  It is important to ask your doctor to check you thyroid function if you feel that you are having symptoms.

Often, at first, you barely notice the symptoms of hypothyroidism, such as fatigue and weight gain.  You might simply attribute them to getting older. But as your metabolism continues to slow, you may develop more obvious signs and symptoms.

Top Sixteen Symptoms of Hypothyroid

  1. Fatigue
  2. Increased sensitivity to cold
  3. Constipation
  4. Dry skin
  5. Unexplained weight gain
  6. Puffy face
  7. Hoarseness
  8. Muscle weakness
  9. Elevated blood cholesterol level
  10. Muscle aches and pain
  11. Pain, stiffness or swelling in your joints
  12. Heavier than normal or irregular menstrual periods
  13. Thinning hair
  14. Slower heart rate
  15. Depressed mood
  16. Impaired memory


Here is a simple checklist of symptoms that may indicate abnormal thyroid function:

____ My facial skin looks or feels thinner
____ My muscles feel weak, particularly the upper arms and thighs
____ I am having difficulty getting to sleep or staying asleep
____ I feel fatigued, exhausted all the time
____ I frequently require more than 8 hours of sleep at night
____ I feel better if I am able to take an afternoon nap every day
____ I am unable to tolerate exercise
____ I have less stamina or energy than others
____ My hair is coarse and dry, breaking, brittle, falling out
____ My skin is coarse, dry, scaly, thin 
____ My eyebrows are thinning, especially the outer 1/3
____ I frequently struggle with constipation or hard stools
____ I am always colder than others around me
____ I typically wear a sweater, even in the summer
____ I am having more breakouts or acne
____ I have pains, aches in joints, hands and feet 
____ I experience numbness or tingling in my hands & fingers
____ I am having irregular periods (women)
____ I am having trouble maintaining erection (men)
____ I am having trouble conceiving a baby
____ I have had one or more miscarriages
____ I feel depressed most of the time
____ I feel restless, or anxious 
____ I have puffiness and swelling around the eyes and face
____ My moods change easily 
____ I have difficulty concentrating or focusing
____ I have more feelings of sadness
____ I seem to be losing interest in normal daily activities
____ I'm more forgetful lately
____ My hair is falling out
____ I can't seem to remember things
____ I have no sex drive
____ I am getting more frequent infections, that last longer
____ My eyes feel gritty and dry
____ My eyes feel sensitive to light 
____ I am having difficulty swallowing or feeling a lump in my throat
____ I have a hoarse or gravely voice
____ I have tinnitus (ringing in ears)
____ I feel some lightheadedness or dizziness
____ I have severe menstrual cramps

Other conditions that may be associated with thyroid dysfunction:

  • Infertility or frequent miscarriage
  • Acne 
  • High cholesterol 
  • Irregular periods 
  • Low libido 
  • Fluid retention 
  • Difficulty swallowing 
  • Respiratory difficulties
  • Iron-deficiency
  • Glaucoma
  • Frequent headaches

Family history that suggests you could have a higher risk for hypothyroidism:

Ten Tips To Support a Healthy Thyroid:

  1. Eliminate gluten from your diet!  One in three patient's with Hashimoto's thyroiditis are sensitive to gluten.
  2. Selenium is essential to a healthy thyroid and the first thing I recommend for those with autoimmune thyroiditis or Hashimoto's.  You can get 200mcg of selenium by eating 2-3 organic brazil nuts daily! 
  3. Wild caught fish, like salmon, supple ample omega-3 fatty acids which are essential for optimal thyroid function.  If you don't eat fish frequently, you can supplement with a high quality Omega3 supplement, like Thorne OmegaPlus 2-3 caps daily.
  4. Get plenty of sunlight to optimize your vitamin D levels and take 1000-2000IU daily of Vitamin D3.
  5. Herbs that support thyroid function include ashwaganda, eleuthero and other adrenal adaptogens. One of my favorite formulas is Gaia Herbs Thyroid Support
  6. Dandelion greens, carrots, spinach, kale, Swiss chard, collard greens, and sweet potatoes are all rich sources of essential Vitamin A 
  7. Use organic coconut oil in your cooking -- it's great for high heat cooking and sautéing many different meats and vegetables. 
  8. Filter your drinking water from chlorine and other harmful chemicals which suppress the thyroid and block iodine
  9. Find daily ways to detox, like using a sauna, taking epsom salt baths, adding chlorella, parsley, or cilantro to your daily smoothie to help your body detoxify from chemical exposures (petrochemicals, PCBs, pesticides, and mercury)
  10. Work on lowering stress levels through daily gratitude, prayer, meditation, yoga, deep breathing!

Environmental Toxins May be Poisoning Your Thyroid

Many environmental factors have the potential to impact thyroid function.  Some of these factors include:
  • Potassium perchlorate, which inhibits iodine uptake by the thyroid, is used in rocket propellant, fireworks, and automobile airbags. Potassium perchlorate is stable in the environment and contaminates water throughout the United States. Newborns and infants are most susceptible to this inhibitory effect on iodine transport. The thiocyanates in cigarette smoke can have effects similar to potassium perchlorate.
  • Isoflavones (phytoestrogens), found in soy proteins, are thyroid peroxidase inhibitors.
  • Pesticides induce glucuronidation of T4 and reduce T4 half-life.
  • Polychlorinated biphenyls are industrial chemicals that were banned in 1975 but still are routinely detected in the environment. They have been shown to reduce T4 levels in animals and are neurotoxic. Their effect varies because of partial agonist effect at the thyroid hormone receptor and their varied chemical structure.
  • Bisphenol A—used in plastics, as resins for coating food cans, and as dental sealants—antagonizes T3 activation of the thyroid hormone b-receptor in rats, causing a thyroid hormone resistance–like syndrome.
  • Keep your home free from these and other toxic chemicals
  • And read the blog on MTHFR for how your genes can also make you more susceptible to thyroid dysfunction and poor detox!

A Prescription for Hypothyroid

If you are truly suffering from hypothryoid, no amount of nutritional supplementation will replace your abnormally low levels of thyroid hormone.  Ask your doctor to do comprehensive thyroid lab testing including:  TSH, free T4, free T3, total T4, total T3, reverse T3, thyroid peroxidase antibodies (TPOs), and thyroglobulin antibodies (TgAb).  An ultrasound to evaluate the appearance of the thyroid is necessary if you are experiencing symptoms of enlarged thyroid or nodules.

Common drug options for thyroid replacement include:
  • T4 preparations
    • Synthroid
    • Levothroid
    • Levoxyl
    • levothyroxine
    • Tyrosint
  • T4/T3 preparations
    • NaturThroid
    • Armour Thyroid
    • ERFA thyroid
    • dessicated thyroid
    • Westthroid
    • Thyrolar
  • T3 only preparations
    • Cytomel

References:
Could Thyroid Dysfunction Be Causing My Symptoms?
Drugs and Environmental Toxins take on the Thyroid
NEJM: Drugs that Influence Thyroid Function


12 May 2013

MTHFR gene mutation... What's the big deal about Methylation?

UPDATE POST OF MTHFR BLOG

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 & repair of DNA & mRNA
  • Detoxification and Neurotransmistter  Production:  interconversion of amino acids
  • Healthy Immune System Function:  formation & 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 & female infertility
  • Pulmonary embolism and other blood clots
  • Depression & 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 screen for MTHFR mutations:

  • Pre-conception care: test both man and woman
  • Mental dysfunction including but not limited to depression, anxiety, irritability, mood swings, schizophrenia, bipolar
  • Infants and children of parents with MTHFR mutations
  • Family members related to someone with MTHFR mutations
  • 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, Chemical sensitivity, Fibromyalgia, Down Syndrome, Chronic fatigue syndrome
  • Neurological disorders: Multiple sclerosis, Autism, Alzheimer’s, Epilepsy, Parkinson’s to name a few
  • Cancer: family history of cancer or undergoing cancer treatment
  • Cervical dysplasia
  • Infertility
  • Cardiovascular risk: family history of strokes, embolisms, heart attacks, clots, essential hypertension
  • Birth defects: cleft palate, tetralogy of Fallot, spinal bifida, midline defects
  • Drug sensitivities: methotrexate, anti-epileptics, 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...

Want more great content like this?  Sign up for my FREE Newsletter here!

For more reading

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