Homocysteine Without Gene Mutation Test
Dr. Jason: What is actually storing thats causing that increased inflammation? What is the actual compound itself?
Dr. Olivia: Okay. Your body uses methylfolate or folate for homocysteine metabolism. Homocysteine, everybody can have this checked on a blood test. Its not a good test for kids though, because its a marker of chronic inflammation within the brain and the cardiovascular system. So its rare that youre going to see high homocysteine in a child, but youll see it in an adult. That is a marker of inflammation in your brain, in your carotid artery, in your blood vessels. It means your body isnt methylating properly, which is increasing your risk for yucky things.
Dr. Jason: Okay. Just in recap on that, for those of you who are listening. If theres a test that you would look at to see if you were methylating correctly, in the absence of knowing you had this gene problem, you want to test for homocysteine.
Dr. Olivia: Ill check homocysteine without a gene mutation test because you can have this gene You have have a heterozygous A1298C mutation which only shuts down methylation by 30%, so youre still methylating at 70%. That persons homocysteine levels might be normal, so who cares that they have the gene mutation? Theyre methylating just fine. Or you can have no gene mutation and have high homocysteine. Thats still a problem. So genetic testing is valuable. I can talk more about the genetic testing itself and what other genes methylate other than MTHFR.
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Mthfr Mutations And Estrogen Balance
Estrogen is a major hormone in female physiology that influences many factors including your energy, mood, and quality of life. Many women have hormone imbalances that produce symptoms, and while estrogen is not the only hormone in your body, it is a major player in symptom production. For example, either too much or too little estrogen in your body can cause mood disorder, PMS, abdominal or pelvic pain, and water retention, to mention only a few symptoms.
Estrogen’s most obvious and predominant roles are its function in the production of secondary sex characteristics and its impact on the female reproductive cycle, including ovulation and endometrial tissue proliferation. It stimulates breast development and supports gestation and lactation. It prepares and matures the centers in your brain that incline you to impregnation and child rearing. Plus, it impacts the maturation of your uterus and endometrial lining, so that you can carry a baby.
There are three primary estrogens: Estrone is mostly seen in post menopausal women Estradiol is the most potent estrogen and predominates in cycling females and Estriol is a weak estrogen which is present during pregnancy. There are also many secondary estrogens that form during the breakdown of these three primary estrogens that continue to have estrogenic activity.
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This Brief List Helps To Make More Sense Of The Entire Concept
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MTHFR C677C = normal MTHFR gene
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MTHFR C677T = heterozygous mutation
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MTHFR T677T = homozygous mutation
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MTHFR A1298A = normal MTHFR gene
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MTHFR A1298C = heterozygous mutation
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MTHFR C1298C = homozygous mutation
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MTHFR C677T + MTHFR A1298C = a compound heterozygous mutation in some combination of C677T + A1298C, C677T + A1298C, C677T + A1298C, or C677T + A1298C.
MTHFR is a critical enzyme in the body. Its required for a metabolic process that repairs DNA, switches genes on and off, and numerous other important functions. Not to be confused with the enzyme, the MTHFR gene provides the instructions for making that MTHFR enzyme. In other words, it triggers production of the enzyme. A mutation in the MTHFR gene may therefore affect enzyme function.
Types Of Hormone Replacement Therapy
Hormone replacement therapy is made with either one or two types of hormones:
- Estrogen only, which helps reduce night sweats, hot flashes, vaginal dryness, and urinary discomfort, in addition to bone loss that’s associated with aging, and is recommended for people who have had their uterus removed
- Estrogen with added progesterone, which helps protect against the risk of endometrial cancer in people who still have a uterus
Each is available in different formulas and dosages.
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How Could I Test For These Two Gene Mutations
We made it simple and easy for you! At your convenience, give us a date and time and well have one of our phlebotomists drive to your home or office to have your blood drawn. This test does not require any fasting as well. Once your blood is drawn, you will receive easy to read test results within one week. Once you have your results, our doctor will evaluate the results and make a recommendation on how to treat the mutation. If you come out negative then that is a big plus for you because you dont have to ever worry about these gene mutation risk. However, remember that more than 50% of the population has one or both of these gene mutations so you should absolutely be testing for them. Call us for more information.
ATTENTION: TO CURRENT PATIENTS
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What Is Methylation And Why Is It So Important
Methylation is a vital metabolic process that happens in every cell and every organ in your body. It takes place a million times a second. Life would simply not exist without it. Think of billions of little on/off switches inside your body that control everything from your stress response and how your body makes energy from food, to your brain chemistry and detoxification. Thats methylation.
For those of you who like to understand the mechanics behind what happens in our body Methylation is a biochemical reaction that involves the transfer of a methyl group onto amino acids, proteins, enzymes, and DNA. The addition of a methyl group onto these molecules facilitates biochemical reactions vital to critical functions in our body such as:
- Turning on and off genes
- Fighting infections and detoxification .
It is also vital for the proper functioning of the Hypothalamic-Pituitary-Adrenal axis and critical for the synthesis of all neurotransmitters. Histamine, for example, the enzyme that converts norepinephrine to epinephrine is dependent on methylation for activation.
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How To Deal With Irregular Hormones And Mthfr
Learn what tests are available today so you can discover genes about yourself that may make your experience in life better. Dr. Olivia Joseph expresses how MTHFR and Irregular hormones can wreak havoc in your body and how some gene mutations we are unaware of could be causing symptoms in your body and ultimately what you can do about it!
Methylation And The Mthfr Mutation
Up until recently, MTHFR, short for the methylenetetrahydrofolate reductase enzyme gene, was nearly unheard of. However, due to its effects on health, especially female fertility, more and more people are finding out about the MTHFR gene mutation. The MTHFR enzyme is necessary for the breakdown of folate in the body. It adds a methyl group of folic acid in order to make it usable by the body. The MTHFR gene is vital in helping the body properly use vitamin B9. It is also needed to convert homocysteine into methionine in order for the body to have a proper metabolism, and for muscle growth.
Surprisingly, as many as 50 percent of Americans have one form or another of an MTHFR gene mutation as a result, it can negatively impact the ability of the genes to methylate as they should. This gene defect can cause many different problems throughout the body, including nutrient absorption and gene expression.
Folate methylation in the body is vital for healthy levels of homocysteine and other various hormones. A specific byproduct of methylation is needed to break down the amino acid of homocysteine into the essential amino acid of methionine. Methionine is required for the body to make certain proteins, be able to use antioxidants, and to help the liver process fats. Once in the liver, methionine turns into s-adenosylmethionine and is needed to reduce inflammation, create neurotransmitters, and repair certain cells.
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When To Get Tested For Homocysteine
Dr. Bryan: All right. Makes a lot of sense and thats actually really, really good to hear. Now, what these tests like Ancestry or 23andMe are allowing us to do is have access to that information before were waiting for those destructive things to happen.
Dr. Olivia: Yes. Whats beneficial of a 23andMe or an Ancestry is theres actually multiple genes involved in methylation, not just MTHFR.
Dr. Bryan: When do we want to get this tested? Is this something that every kid should get tested or-
Dr. Olivia: No. We run homocysteine on everybody when we run our comprehensive blood chem, not necessary for a child, definitely for an adult. For a kid Id almost rather check gut health, B12 levels, folate levels, and test for the gene mutation. For an adult, I want to see how theyre methylating. Is this a chronic issue? Because its one we can start to improve in as little as three months. So its important to understand your genes are not your destiny. Genetics might load the gun, but its your lifestyle that pulls the trigger. This is not a new mutation. Its been around for centuries.
Little Doses Of Cyanide In Your Body
Dr. Olivia: Okay. Thats a great question. Yes. Any time you have higher levels of inflammation, youre going to have lower levels of energy because your body has to fight the inflammation and thats an exhaustive process. That depletes energy. MTHFR is dependent on two nutrients, B12 and folate. Well, what do these energy drinks have?
Dr. Jason: B12.
Dr. Olivia: B12. What do we go to Walgreens and buy when were tired all the time?
Dr. Jason: 5-hour ENERGY.
Dr. Olivia: B12. Right. People are self-medicating with B12, but the problem is is theyre getting cyanocobalamin. Cyanocobalamin, I love this process. I love pathways and thats why I love genetics, because its just a pathway. Cyanocobalamin converts to cyanide before it converts to methylcobalamin. Guys, whats cyanide?
Dr. Bryan: Kills you.
Dr. Olivia: Poison. So if you have this gene mutation and you cant methylate properly, you take synthetic B12 in these energy drinks, in these xyz pills, and youre actually putting a little bit of poison in your body because your body cant convert it to the good kind. When people take B12 shots, thats cyanocobalamin. If youre going to take B12, you want it to be methylcobalamin. That is the most bioavailable form thats not potentially going to turn to poison in your body.
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Postmenopausal Hormone Therapy And Venous Thromboembolism
Some of the most recent evidence regarding the risk of VTE and PHT came from the terminated estrogen-progestin arm and estrogen-only arm of the WHI. Although the development of VTE was not one of the primary outcomes of this trial, multivariate analysis showed it to be the most significant risk. The use of PHT increased the risk of VTE twofold, which means PHT users have 34 VTE events annually per 10,000 women ver-sus 16 VTE events per 10,000 women who are not PHT users. The risk of VTE with PHT persisted throughout the 5-year study and was notably less in the estrogen-only arm .6
The ESTHER study group, a French case-controlled study, reported that oral but not transdermal PHT estrogen was associated with increased risk of VTE in postmenopausal women.7 Their data suggest but do not confirm that transdermal estrogen may be safer than oral estrogen with respect to VTE risk. The original publication from the WHI indicated an increased risk for cardiovascular disease in PHT users. However, after central adjudication, these data did not show any significant increased risk for cardiovascular disease in PHT users. Obesity and oral HT in the context of inherited hypercoagulabilty in-creases risk of VTE while mutations carriers for factor V Leiden and PGM in the context of normal body mass index and transdermal HT do not appear to have any higher risk for VTE compared with mutation carrier controls not on any HT.
Pathophysiology
Factor V Leiden Mutation
What Is Mthfr Gene Mutation
Those with a defective MTHFR gene have an impaired ability to produce the MTHFR enzyme . This can make it more difficult to break down and eliminate substances like heavy metals. Individuals with the MTHFR gene mutation have difficulties processing B9 in the form of folic acid . This type of B9 may even cause a build-up in the body leading to toxicity which can raise levels of homocysteine.
Elevated homocysteine levels are associated with a higher risk of heart disease, inflammation, birth defects. In addition, homocysteine can re responsible for difficult pregnancies, and potentially an impaired ability to detoxify. This also affects the conversion to glutathione, which the body needs to remove waste and which is a potent antioxidant. Many factors can contribute to the expression of the MTHFR mutation including our environment, foods, chemical exposure & stress.
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Mthfr Polymorphisms Diet Hrt And Breast Cancer Risk: The Multiethnic Cohort Study
Request for reprints:
Loic Le Marchand, Christopher A. Haiman, Lynne R. Wilkens, Laurence N. Kolonel, Brian E. Henderson MTHFR Polymorphisms, Diet, HRT, and Breast Cancer Risk: The Multiethnic Cohort Study. Cancer Epidemiol Biomarkers Prev 1 December 2004 13 : 20712077.
Recommended Nutrients For Balancing Estrogen
-Calcium-D-Glucarate
This form of calcium promotes phase 2 glucuronidation a phase II biotransformation reaction that helps to make molecules more water-soluble. Its also believed to be a beta-glucuronidase inhibitor, which helps prevent the reabsorption of detoxified estrogens through second-pass metabolism.
Simply put, calcium-d-glucarate binds to circulating estrogen that would otherwise be reabsorbed by your body, then allows it to be flushed out.
– Diindolylmethane
Diindolylmethane is a compound formed in the body from plant substances of cruciferous vegetables such as cabbage, Brussels sprouts, cauliflower, and broccoli.
DIM supplementation helps to metabolize estrogen into more good metabolites than the potentially harmful metabolites. It also appears to help destroy cancer cells and reduce inflammation.
– Glutathione promoters and/or cofactors
Proper glutathione function is essential for the removal of harmful free radicals inside cells which can damage DNA. Mutations can lead to insufficient DNA repair, a major risk in the development of cancer.
N-Acetyl-L-Cysteine and resveratrol are two important antioxidants that can help reduce the formation of estrogen-DNA adducts and prevent several cancers. Vitamin D supplementation is also effective in inhibiting breast cancer cell growth.
– Additional herbs and nutrients
Milk thistle, dandelion, Alpha-Lipoic acid all support healthy liver function and the safe detoxification and clearance of excess estrogens.
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The Consequences Of Mthfr Mutations
The importance of the methylation cycle, impacted by MTHFR mutations, can not be understated. Some of the consequences of altered MTHFR function include:
- Increased heavy metal toxicity
- Increased homocysteine leading to vascular inflammation
- Poor conversion of homocysteine to glutathione
- Poor conversion of homocysteine to methionine
How To Treat Estrogen Dominance
– Improve your diet
Cut out foods that are likely to contain hidden estrogens from added hormones, pesticides, and fertilizers used in conventional farming methods. This includes processed meats, dairy products, and produce.
Stick to grass-fed meats and organic foods whenever possible. Drink only pure filtered water.
– Ditch the toxins
Check the labels on your skincare products and avoid those with synthetic compounds. Use glass or stainless steel bottles and containers for food.
– Minimize stress
Take some time out for yoga or meditation, or at least 30 minutes of gentle exercise. Make sure youre getting adequate sleep at night to allow your body to recover from daily stresses.
– Support methylation and detoxification
Healthy liver function is the first step in correcting and/or preventing poor estrogen metabolism and rebalancing estrogen levels. Specific nutrients can help to clear excess estrogen from the body and restore hormonal balance, while also supporting optimal estrogen metabolism and detoxification.
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What Happens When The Mthfr Gene Is Defective
Those with a defective MTHFR gene have an impaired ability to produce the MTHFR enzyme which can make it more difficult to break down and eliminate not only synthetic folic acid but other substances like heavy metals. Since folic acid cant be converted into the usable form, it can build up in your body, which can raise levels of homocysteine. Higher homocysteine levels are associated with a higher risk in cardiovascular disease. This also affects the conversion to glutathione, which is a potent antioxidant and which the body needs to remove waste.
This is all fairly new and we are just learning the extent to which this can affect our health, but there is strong evidence that because of the effect on methylation, it can increase cardiovascular disease risk, risk of cancer and risk of fetal development problems and more. It can also possibly cause or contribute to other problems like autoimmune disease, mental issues and more.
Here at Renewed Vitality, when it is indicated, we can order testing for MTHFR gene mutation and this is something you can discuss with your practitioner at your appointment. If such testing is positive, the treatment for the MTHFR gene mutation is very simple. It involves taking methylated vitamins: Methyl-Cobalamin and Methyl-Folate . We offer these supplements in both of our offices.