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  • Writer's pictureNancy Mullan, MD

MTHFR + and Chronic illness

Chronic fatigue and fibromyalgia have been a mystery for years. You seem healthy, but you are tired all the time. You can't enjoy things you used to love; you don't have the energy to go anywhere or do anything; you feel physically weak, and if you push yourself, you pay for it for weeks or months with symptoms such as worse fatigue, swollen glands, and a sore throat. Your brain is fogged. You have little clarity and feel as if you can hardly think. Your body may have aches and sore places, your muscles may be painful. It is nearly impossible to function.

You haven't always felt like this. It seems to have come on slowly after your kids were born when you were in mid-life, but now it has gotten worse. You can hardly do anything before slumping into a chair. Your husband and kids are angry. They are in dismay and disbelief about what is wrong with you. The doctor does not seem to have a solution. He keeps on offering you  prescriptions that do very little. It is a major problem. How could this have happened to you? What function are you going to lose next? What can you do to recover and stop the progress of this illness?

Both chronic fatigue and fibromyalgia, which is chronic fatigue associated with a pain syndrome, are disorders of mitochondrial function. The interest in mitochondrial health and its relationship to chronic illness has grown exponentially in the last 15 years. The mitochondria are well known as the energy generator of your cell, but in the chronic illness context they play another role. They are involved in determining what genes in your body are turned on or off and how powerfully the genes can express. In other words, your mitochondria are epigenetic modifiers of your cell's genetic function.

Epigenetic means 'around the genes'. The mitochondria do not change the structure of the gene itself. They function epigenetically, in the cell's environment that surrounds the gene, to modulate the expression of the gene. If mitochondria are damaged, they won't perform this function well. Poor nutrition, chronic physical or mental stress, a sedentary lifestyle, chronic inflammation, certain prescription drugs, and environmental toxins can all damage mitochondria. The prescription drugs that damage the mitochondria include Tylenol (acetaminophen), tricyclic antidepressants, statins, certain antivirals, certain antibiotics, and chemotherapy.

An MTHFR mutation also impacts how well genetic function is regulated. An MTHFR mutation, along with the status of the genes surrounding it in your methyl group producing pathway, impacts the number of methyl groups which you are able to make. Methylation of the DNA in your gene modifies the activity of the gene. At any given time, 80% of your genes should not be expressing; they should be turned down or off. Methyl groups silence genes. If you have too few methyl groups to perform this function, it adds to the problem of damaged mitochondria. Too few methyl groups and damaged mitochondria add up to aberrant regulation of your genetic material. Inevitably you end up with some form of illness.

The biochemical pathway in your body that makes methyl groups needs to be functioning smoothly. Methyl groups are necessary for optimal genetic expression. Significant health issues follow if your methyl group producing pathway cannot function to make the methyl groups you need to regulate your genetic output. Poor function in this pathway is directly related to a range of health disorders, not just chronic fatigue or fibromyalgia. Your genetic function needs to be balanced and methyl groups perform this balancing action. If you have any form of chronic illness, you would do well to test the genetics of your methyl group producing pathway in order to optimize its function with targeted nutritional supplementation. Good tests are either Holistic Health International's DNA Methylation testing or Ancestry and Health from . The better test for methylation genetics is DNA Methylation testing. It is a blood test. You get the sample by using a finger stick and putting your blood sample on a blotter provided in the test kit. Blood testing for genes is more expensive than saliva, but none of the genes are missing and you are sure of its accuracy. Ancestry and Health is also an option. It is a saliva test and does come up with a number of the methylation genes that are important. The test is accurate enough, but the problem with 23andme is that they don't test for all of the important genes in the biochemical pathway that makes methyl groups, and they frequently come up with n/a for genes that are important. Saliva gene testing is significantly less expensive than blood testing. If you are not really impaired by your illness, this test is a reasonable option. The many other gene testing services do not usually have enough information about the genes involved in making methyl groups to look at the function of that pathway in detail, however I will look at whatever genetic testing you may have. If you have any questions about an MTHFR mutation, your health or what you are doing to support your health, you can get an Exploratory Conversation with me. It is a 30-minute conversation in which I will listen to your health issues, review your recent test results, and make recommendations about what  you should do. It will clear up any confusion you have about which direction is up, which supplements may help, and/or what else you should do at this point. The fee for this service is $129. It is easy to set a time for one soon, and it can save you from lurching around in the dark with a clinician who doesn’t know that much about MTHFR + and how it relates to your issues. I can give you experienced, thoughtful input that can clarify what to do in what may be a stressful time for you. You may be dealing with conditions in your body that are confusing and difficult to understand. You do not have to deal uninformed with a physician whom you may not know. You can cut through all that and get clarifying input that gives you hope and moves you away from vulnerability to strength. You can go into the situation with an effective plan. I look forward to being able to help you.  Dr. Mullan

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