MTHFR
MTHFR/COMT Genetic Methylation Profile
Methylation is key for every area of optimal health!
How Are Your Genes Functioning?
Both MTHFR and COMT genes are involved in the methylation pathway and testing their function is an important component of your anti-aging strategy.
Think of billions of on/off switches that control most of your body’s functions such as:
When methylation is working, it helps you feel full of energy, in a good mood, and just generally well! When it is not working, you can feel tired, depressed, irritable, run-down, susceptible to infections, foggy-brained, and just plain "toxic." This genetic methylation profile looks for gene mutations (also called SNP's) of the following two enzymes:
Think of billions of on/off switches that control most of your body’s functions such as:
- Brain chemistry important for mood, anxiety and stress
- Immune function
- Controlling inflammation
- Energy production
- Detoxification of chemicals and toxins
- Cardiovascular health
When methylation is working, it helps you feel full of energy, in a good mood, and just generally well! When it is not working, you can feel tired, depressed, irritable, run-down, susceptible to infections, foggy-brained, and just plain "toxic." This genetic methylation profile looks for gene mutations (also called SNP's) of the following two enzymes:
- MTHFR - (5,10-methylenetetrahydrofolate reductase)
- Research has shown that some people may be at risk of methylation insufficiency due to reduced MTHFR enzyme function.1
- Two common mutations in the MTHFR gene (C677T and A1298C) may contribute to increased levels of homocysteine, a known risk factor for heart disease, atherosclerosis2 and venous thrombosis.3
- Those with a genetic mutation in MTHFR will have varying levels of difficulty creating the active form of folic acid which is the important form the body needs to function properly.
- Maintaining levels of activated folate may also aid in preventing depression.4-6
- Those with a genetic mutation in MTHFR should consider taking activated folate vs. regular folic acid.
- The best genotype to have in the C677T position is CC since it contains no mutations. The worst genotype to have in this position is TT since it contains two copies of the mutation.
- The best genotype to have in the A1298C position is AA since it contains no mutations. The worst genotype to have is CC since it contains two copies of the mutation.
- COMT - (Catechol-O-methyltransferase)
- A common mutation in COMT, the conversion of the amino acid valine to methionine at positon 158 causes a dramatic reduction in its ability to break down neurotransmitters.7-9
- Since COMT is central to dopamine metabolism, mutations are associated with lowered stress resiliency, increased sensitivity to pain10,11 and the propensity to worry.
- COMT also plays a role in estrogen metabolism and may lower the cancer-causing potential of metabolites.12
- The wildtype genotype is GG (Val/Val) since it contains no mutations. The homozygous mutated genotype is AA (Met/Met) since it contains two copies of the mutation.
Folate and Methylation
There are about 40 different genetic mutations that can affect MTHFR. About 40% of the population has one abnormal gene and are moderately affected. About 12% of the population has two abnormal genes and is more significantly affected. Problems associated with MTHFR mutations include elevated risk of stroke and heart attack, increased cancer risk, defects in embryo development (spinal tube defects), and neurological symptoms including insomnia, irritability, depression, brain fog, neuropathy (burning tingling feet and hands), and restless leg syndrome. It also can be a factor in recovery from fibromyalgia and Lyme disease.
For folks who want the technical details:
MTHFR is a gene that codes for an enzyme called methylenetetrahydrofolate reductase. This enzyme is vital for creating 5-methyltetrahydrofolate, an essential substance for converting the amino acid homocysteine into the amino acid methionine. Methionine is essential for amino acid synthesis, formation of glutathione (important intracellular antioxidant), formation of DNA, and detoxification. Methionine is important for formation of SAMe, which plays a key role in metabolism of dopamine, serotonin, and melatonin. Without this important enzyme, all these pathways are blocked.
Testing for MTHFR Mutations
This is a simple blood test that costs about $150. Checking for elevations of homocysteine and RBC folate in the blood is an indirect way to check for the problem. The best solution for elevated levels is getting plenty of natural 5-methyltetrahydrofolate (methylfolate for short). Leafy greens are a great source, but if you have a mutation, supplementing is a good idea. Folic acid, found in most multivitamin products, will not work because it must be converted by the deficient enzyme.
You must supplement with 5-methyltetrahydrofolate. 5-methyltetrahydrofolate 400-800 micrograms daily is generally adequate for anyone with a single mutation (especially if you eat plenty of leafy greens). If you have a double mutation, it is a good idea to take an extra 400-800 micrograms. For additional benefit, you can add SAMe 400-800 mg daily. SAMe supports detoxification and can improve sleep (take it in the evening).
Chemical components called “methyl groups” that are essential for proper detoxification can also be supplied by vitamin B6 and vitamin B12. It is, however, important to get the activated forms of these important vitamins. The activated form of vitamin B6 is pyridoxal 5-phosphate and the active form of vitamin B12 is methylcobalamin.
Healthful diet and adequate supplementation of methyl donors is generally adequate for recovery. MTHFR testing is only necessary if recovery is not progressing.
In my medical practice, I had the fortune of working with a lab that measured MTHFR for no charge. For the five years it was available, I tested all my patients. Surprisingly, I found it played a more minor role in recovery than I expected. I had chronic Lyme sufferers who were severely symptomatic who had no mutations and perfectly healthy people who had double mutations.
There are about 40 different genetic mutations that can affect MTHFR. About 40% of the population has one abnormal gene and are moderately affected. About 12% of the population has two abnormal genes and is more significantly affected. Problems associated with MTHFR mutations include elevated risk of stroke and heart attack, increased cancer risk, defects in embryo development (spinal tube defects), and neurological symptoms including insomnia, irritability, depression, brain fog, neuropathy (burning tingling feet and hands), and restless leg syndrome. It also can be a factor in recovery from fibromyalgia and Lyme disease.
For folks who want the technical details:
MTHFR is a gene that codes for an enzyme called methylenetetrahydrofolate reductase. This enzyme is vital for creating 5-methyltetrahydrofolate, an essential substance for converting the amino acid homocysteine into the amino acid methionine. Methionine is essential for amino acid synthesis, formation of glutathione (important intracellular antioxidant), formation of DNA, and detoxification. Methionine is important for formation of SAMe, which plays a key role in metabolism of dopamine, serotonin, and melatonin. Without this important enzyme, all these pathways are blocked.
Testing for MTHFR Mutations
This is a simple blood test that costs about $150. Checking for elevations of homocysteine and RBC folate in the blood is an indirect way to check for the problem. The best solution for elevated levels is getting plenty of natural 5-methyltetrahydrofolate (methylfolate for short). Leafy greens are a great source, but if you have a mutation, supplementing is a good idea. Folic acid, found in most multivitamin products, will not work because it must be converted by the deficient enzyme.
You must supplement with 5-methyltetrahydrofolate. 5-methyltetrahydrofolate 400-800 micrograms daily is generally adequate for anyone with a single mutation (especially if you eat plenty of leafy greens). If you have a double mutation, it is a good idea to take an extra 400-800 micrograms. For additional benefit, you can add SAMe 400-800 mg daily. SAMe supports detoxification and can improve sleep (take it in the evening).
Chemical components called “methyl groups” that are essential for proper detoxification can also be supplied by vitamin B6 and vitamin B12. It is, however, important to get the activated forms of these important vitamins. The activated form of vitamin B6 is pyridoxal 5-phosphate and the active form of vitamin B12 is methylcobalamin.
Healthful diet and adequate supplementation of methyl donors is generally adequate for recovery. MTHFR testing is only necessary if recovery is not progressing.
In my medical practice, I had the fortune of working with a lab that measured MTHFR for no charge. For the five years it was available, I tested all my patients. Surprisingly, I found it played a more minor role in recovery than I expected. I had chronic Lyme sufferers who were severely symptomatic who had no mutations and perfectly healthy people who had double mutations.
Oral Ties, Which is a Birth Defect!
All doctors, nurses, dentists, ENTs, and lactation consultants need to be educated on oral ties, which is a birth defect!! It can be linked with or to midline defects, which also should be checked out at birth. I know dozens of struggling parents trying to find answers and searching themselves to help their child with oral ties with or without the help of their pediatricians and other doctors.
Oral ties NEED to be assessed at birth and if not caught, then at the first dr. visit--especially if a parent like a nursing mom voices concern about pain when nursing or any related issues below. Oral ties NEED to be fixed early on so the symptoms below are less likely to happen, and using laser with stretches afterwards, or laser with stitches, should be done. Having chiropractor care, Myofunctional therapy, Craniosacral therapy, and other body work care helps to bring the body to a state it should have been if the tie’s tissue was not present at birth.
Normally that tiny tissue would have been dissolved in the womb but more and more babies are born with it. Some say it’s folic acid use vs. real folate during pregnancy. Doctors who see pregnant women, you should recommend FOLATE NOT FOLIC ACID during pregnancy! Some say it's genetics, esp. those related to MTHFR gene mutation.
Some say it’s baloney and people need to stop researching it... But in 1600s, midwives would snip it to create a better nursing experience. One doctor decided it was nonsense and thus years of failure to catch oral ties as formula came into play. If the midwives were fixing them back then, why must we ignore them today when mothers want to nurse because it is healthier and benefits the baby’s overall development?
Please, as a mother who had gone through hell and back trying to get answers for her baby, EDUCATE yourself on oral ties!!! Read the articles, read the book, take classes, and stop ignoring the signs!!
Oral Ties Symptoms
In nursing moms:
Oral ties NEED to be assessed at birth and if not caught, then at the first dr. visit--especially if a parent like a nursing mom voices concern about pain when nursing or any related issues below. Oral ties NEED to be fixed early on so the symptoms below are less likely to happen, and using laser with stretches afterwards, or laser with stitches, should be done. Having chiropractor care, Myofunctional therapy, Craniosacral therapy, and other body work care helps to bring the body to a state it should have been if the tie’s tissue was not present at birth.
Normally that tiny tissue would have been dissolved in the womb but more and more babies are born with it. Some say it’s folic acid use vs. real folate during pregnancy. Doctors who see pregnant women, you should recommend FOLATE NOT FOLIC ACID during pregnancy! Some say it's genetics, esp. those related to MTHFR gene mutation.
Some say it’s baloney and people need to stop researching it... But in 1600s, midwives would snip it to create a better nursing experience. One doctor decided it was nonsense and thus years of failure to catch oral ties as formula came into play. If the midwives were fixing them back then, why must we ignore them today when mothers want to nurse because it is healthier and benefits the baby’s overall development?
Please, as a mother who had gone through hell and back trying to get answers for her baby, EDUCATE yourself on oral ties!!! Read the articles, read the book, take classes, and stop ignoring the signs!!
Oral Ties Symptoms
In nursing moms:
- Pain with latching or breastfeeding
- Blistered/bleeding nipples
- Sore or cracked nipples
- “Lipstick effect”-nipple squashed after nursing due to shallow latch
- Thrush/Mastitis (Bright pink nipple)
- Plugged ducts
- Reduction/compromised milk supply
- Over-active letdown/oversupply
- Sleep deprivation (because baby isn’t efficiently getting enough milk in and may compensate by nursing more often or all night long)
- Long nursing sessions
- Anxiety, stress, fatigue, depression
- Frustration, disappointment, discouragement of breastfeeding
- Sense of failure to her baby
- Fussiness/unhappy baby all the time
- Vasospasms
- Baby labeled “lazy nurser” –falling asleep without finishing feeding
-
***The pain explained by multiple mamas I asked who had babies with oral ties. Many of these mamas didn’t know until another mom shared her experience. - “Feel like sandpaper ripping my nipples”
- “Felt pain go all way down to my toes”
- “Pain felt from nipple to my stomach”
- “Felt like teeth and sharp pins and knifes ripping my nipples”
- “Pain radiated up to my throat!”
- “Felt like I had a bear clawing at my chest. I cried.”
- Breast feeding is not suppose to hurt. Or be so painful you cannot get up from the couch wiped out from another feeding session. You are not alone. Tons of mamas have had no support. Share this and bring awareness to as many mamas and parents as possible! If we can educate our medical staff we might be able to save generations of children suffering from a restricted tongue, lip(s), etc.
- Lip tie upper and lower:
- Poor latch when nursing
- Upper tooth gap
- Tooth decay or rot
- Cavities
- Crooked teeth
- Poor mouth health
- Gum recession
- Gingivitis
Tongue tie:- Poor latch/ difficulty nursing including bottle feeding
- Poor sucking/ uncoordinated suckling
- Poor milk intake or poor weight gain
- Baby gumming/chewing nipple
- Clicking noises when sucking
- Popping off the breast to gasp for air
- Screaming at breast or pushing away from breast
- Gas/wind/Colic
- Stomach pain
- Reflux/silent reflux
- Arching back
- Excessive vomiting
- Refusing to nurse
- Inability to take pacifier for long/refuse to even take a pacifier
- White coating on tongue esp. back half of the tongue
- Suckling blisters along length of lips.
- Gut health issues
- Constipation
- Bed wetting or many accidents during the day
- Poor movement of the tongue
- Side to side
- Up and down to roof of mouth
- Inability to sticking tongue out to or past lips
- Inability to close properly for nose breathing when asleep
- Pain when trying to lift or move tongue out of mouth
- Sleep Issues
- ADHD symptoms due to lack of oxygen to body
- Sleep apnea
- Insomnia
- Not sleeping “through the night”
- Other sleep issues
- Food Issues
- Improper swallowing (food or liquids)
- Spitting up milk or spilling milk out of mouth (baby)
- Gagging or choking
- Food or fluids go down “wrong tube” often
- Messy eater
- Slow eater
- Difficulty with food textures or sensory issues with food
- “squirreling food”
- Speech Issues or Impairment
- Mute
- Have a lisp
- Not able to say certain vowels
- Difficulty talking fast or loud where slurring occurs
- Talks soft or slow
- Teeth Issues
- Decay or rot
- Cavities
- Crooked lower teeth
- Wisdom teeth removal due to no room in mouth
- Narrow Pallet
- Leading to sinus issues like chronic sinus infections
- Difficulty opening mouth wide
- Jaw or joint posture
- Leading to TMJ
- Jaw pain
- Migraines
- Neck and shoulder issues
- Pain or stiffness
- Tight muscles
- Positional Plagiocephaly and Torticollis
- Occur from pressure on the sternocleidomastoid muscle within the neck leading to
- i.Pain or difficulty with breastfeeding on one side of the body
ii. Head tilts
iii.Head preference to one side
iv.Difficulty visually tracking to both sides
v.Decreased tolerance of tummy-time - Forward or slump posture
- Bad breath
- Constant ear and tonsil infections
- Leading to ear tubes and tonsil removal
-
Buccal Tie (cheek ties): - Poor latch when nursing
- Gingivitis
- Gum recession
- Cavities/tooth decay
Oral Ties Also Linked to- Failure to thrive diagnosis
- MTHFR gene mutations, though some ties are present without this mutation.
- Midline defect issue
MTHFR Diet. What Do I Eat If I Have The MTHFR Gene Mutation?
By request here's a list I complied from multiple sources. There's no 100% agreement on which foods are high histamine... when I first realized I had issues and tried to follow a low histamine diet I found the lack of consistency on the lists frustrating... that was years ago. I'm having issues again and put this list together for quick reminders.
Remember all foods increase in histamines the longer it cooks, the longer it's been cut, and the longer it sits as leftovers. And Like Yasminia has learned, sometimes restrictive diets end up causing more health problems until you're eating 3 things which isn't healthy either. She highly suggests adding nutrient dense healing foods as the focus more than the avoiding foods... but when you're in the thick of it... the short term avoiding high histamine things can be helpful to help get things under control.
Remember all foods increase in histamines the longer it cooks, the longer it's been cut, and the longer it sits as leftovers. And Like Yasminia has learned, sometimes restrictive diets end up causing more health problems until you're eating 3 things which isn't healthy either. She highly suggests adding nutrient dense healing foods as the focus more than the avoiding foods... but when you're in the thick of it... the short term avoiding high histamine things can be helpful to help get things under control.
RECIPES for Those Living With MTHFR
|
Breakfast
Dinner
|
Snacks/Desserts
|
| foods_histamine_intolerance.docx |
Reference Links:
https://www.drstevenlin.com/tongue-tie-symptoms-kids-teeth/
https://ibconline.ca/tongue-tie/?fbclid=IwAR1FPeAcsPumCmooH9SHL8fVm8QqLvxzh7UyqC1h1gME4k2TTbFBqKDNP2Y
https://ibconline.ca/tongue-tie/
http://www.theijcp.org/index.php/ijcp/article/view/295/254
https://blog.ochsner.org/articles/untying-tongue-ties-a-brief-introduction-to-tethered-oral-tissue?fbclid=IwAR3zAADwvg3gtf0OndYkYTYJey9n-nPYfLsiPo_V2UU680xkeo_PXhCID_c
https://kidstowndentist.com/myofunctional-issues-children-aged-2-5/?fbclid=IwAR2oOvemAdUjBm12REtnCpRlhiHBziBWQrFNtnsaY-3e6Qx5L4HZtYXueMI
https://www.kiddsteeth.com/assets/pdfs/articles/drkotloworalhealth2015.pdf?fbclid=IwAR0tsqs7dRRL8ZifTdB14YKuiVew4g5NZkFMIFxmCqJEo2i_aLqurG839bQ
http://www.firstfoodforbaby.com/tongue-lip--buccal-ties.html
https://shelbypediatricdentistry.com/tongue-ties-lip-ties/
https://www.scribd.com/document/357814297/s2#from_embed
How to diagnose oral ties:
https://www.drghaheri.com/blog/2014/2/15/how-to-examine-a-baby-for-tongue-tie-or-lip-tie?fbclid=IwAR1dMc7N-Nh2imEpRc-PhodLL94mtW0_zz4dNOTNYkkOsmcnw-Q_JQqLHVc
https://www.mommypotamus.com/a-step-by-step-guide-to-diagnosing-tongue-ties/
TOTS
https://www.kiddsteeth.com/assets/pdfs/articles/drkotloworalhealth2015.pdf
Stretches aftercare
https://m.youtube.com/watch?v=_VRwAz2Mv_Y
If undiagnosed or fixed these babies and children grow up to have issues as adults.
https://www.drstevenlin.com/adult-tongue-tie-surgery-changed-life/
Some examples of bodywork
http://www.ankyloglossiabodyworkers.com/benefits-of-bodywork.html
The book that answered all my questions doctors was not helping with. ALL Doctors working with babies or children should read this and take notes!!!
https://tonguetieal.com/book/?fbclid=IwAR0UFwjGO9FgWqURCdK1x9Ks_zGRf-JGUYILXwb6Dn0RyBoBntMDuw9AFsE
This is a book to read about breastfeeding mentioning oral ties causing issues
https://www.amazon.com/Breastfeeding-Empowering-Jack-Newman-FRCPC/dp/1717802842/ref=sr_1_fkmrnull_7?crid=3ITAFMEG1R6IC&keywords=dr.+jack+newman%27s+guide+to+breastfeeding+updated+edition&qid=1548055294&sprefix=breastfeeding+dr+jack%2Caps%2C248&sr=8-7-fkmrnull
Tongue development
https://www.beckmanoralmotor.com/impairments/tongue-patterns.php
Support groups:
Babies
https://m.facebook.com/profile.php?id=135771536475203&ref=content_filter
Kids
https://m.facebook.com/profile.php?id=1882241482016556&ref=content_filter
Adults
https://m.facebook.com/profile.php?id=1494393564165999&ref=content_filter
Other/related
https://m.facebook.com/groups/387696118280810?group_view_referrer=profile_browser
https://www.drstevenlin.com/tongue-tie-symptoms-kids-teeth/
https://ibconline.ca/tongue-tie/?fbclid=IwAR1FPeAcsPumCmooH9SHL8fVm8QqLvxzh7UyqC1h1gME4k2TTbFBqKDNP2Y
https://ibconline.ca/tongue-tie/
http://www.theijcp.org/index.php/ijcp/article/view/295/254
https://blog.ochsner.org/articles/untying-tongue-ties-a-brief-introduction-to-tethered-oral-tissue?fbclid=IwAR3zAADwvg3gtf0OndYkYTYJey9n-nPYfLsiPo_V2UU680xkeo_PXhCID_c
https://kidstowndentist.com/myofunctional-issues-children-aged-2-5/?fbclid=IwAR2oOvemAdUjBm12REtnCpRlhiHBziBWQrFNtnsaY-3e6Qx5L4HZtYXueMI
https://www.kiddsteeth.com/assets/pdfs/articles/drkotloworalhealth2015.pdf?fbclid=IwAR0tsqs7dRRL8ZifTdB14YKuiVew4g5NZkFMIFxmCqJEo2i_aLqurG839bQ
http://www.firstfoodforbaby.com/tongue-lip--buccal-ties.html
https://shelbypediatricdentistry.com/tongue-ties-lip-ties/
https://www.scribd.com/document/357814297/s2#from_embed
How to diagnose oral ties:
https://www.drghaheri.com/blog/2014/2/15/how-to-examine-a-baby-for-tongue-tie-or-lip-tie?fbclid=IwAR1dMc7N-Nh2imEpRc-PhodLL94mtW0_zz4dNOTNYkkOsmcnw-Q_JQqLHVc
https://www.mommypotamus.com/a-step-by-step-guide-to-diagnosing-tongue-ties/
TOTS
https://www.kiddsteeth.com/assets/pdfs/articles/drkotloworalhealth2015.pdf
Stretches aftercare
https://m.youtube.com/watch?v=_VRwAz2Mv_Y
If undiagnosed or fixed these babies and children grow up to have issues as adults.
https://www.drstevenlin.com/adult-tongue-tie-surgery-changed-life/
Some examples of bodywork
http://www.ankyloglossiabodyworkers.com/benefits-of-bodywork.html
The book that answered all my questions doctors was not helping with. ALL Doctors working with babies or children should read this and take notes!!!
https://tonguetieal.com/book/?fbclid=IwAR0UFwjGO9FgWqURCdK1x9Ks_zGRf-JGUYILXwb6Dn0RyBoBntMDuw9AFsE
This is a book to read about breastfeeding mentioning oral ties causing issues
https://www.amazon.com/Breastfeeding-Empowering-Jack-Newman-FRCPC/dp/1717802842/ref=sr_1_fkmrnull_7?crid=3ITAFMEG1R6IC&keywords=dr.+jack+newman%27s+guide+to+breastfeeding+updated+edition&qid=1548055294&sprefix=breastfeeding+dr+jack%2Caps%2C248&sr=8-7-fkmrnull
Tongue development
https://www.beckmanoralmotor.com/impairments/tongue-patterns.php
Support groups:
Babies
https://m.facebook.com/profile.php?id=135771536475203&ref=content_filter
Kids
https://m.facebook.com/profile.php?id=1882241482016556&ref=content_filter
Adults
https://m.facebook.com/profile.php?id=1494393564165999&ref=content_filter
Other/related
https://m.facebook.com/groups/387696118280810?group_view_referrer=profile_browser
