Most people find their way to me because someone has told them that they have the famous MTHFR or “mother father” gene. Don’t worry, it's not the end of the world-- but it is the tip of the iceberg in terms of things you can uncover about your nutrigenetics. A methyl group is just a carbon with three hydrogens (CH3) in biochemistry, or what I like to call the coin for your slot machines. Methyl groups are used in epigenetics-- again, another big word (don’t be afraid of it)-- to turn genes off and on. Epigenetics means above genetics or how the environment affects your genes. I like to think of these methyl groups as post-it notes for DNA. Imagine going to sign a loan at your bank and a loan officer has pre-marked all the spots you need to sign with post-it tags. If you envision that, I find it helps to understand what methylation is. People with problems with methylation seem to have a shortage of building these methyl groups or coins that are needed to play the slot machines. Defects in what we call the methylation pathway opens the door for environmental and infectious injury, resulting in conditions like diabetes, cardiovascular disease, thyroid disease, Alzheimer's disease, Parkinson’s disease, immune dysfunction, premature aging, atherosclerosis, cancer, ADD, ADHD, depression, and anxiety. Learning about your methylation pathways and supplementing with the appropriate nutrients in the right amounts at the right time can bypass genetic mutations, allowing for restoration of a functional pathway.
Epgui, CC BY-SA 3.0 <https://creativecommons.org/licenses/by-sa/3.0>, via Wikimedia Commons
Methylation of folate (vitamin B9) and cobalamin (vitamin B12) is essential for many reactions in the body. Both genetic pathways are multistep, meaning they require multiple enzymes to make the coin (CH3). The most central pathway in the body where people can have gen weaknesses is the folate pathway. There are several key points in this pathway where blockages can happen. To understand this it is important to widen the scope from just MTHFR to anywhere where there could be a blockage or a narrowing in the entire pathway. This is kind of like having a hairball clogging the drain in your shower versus a larger clog of baby wipes clogging the toilet as the sewage system makes its way out of your house. Having a mutation in the methylation pathway does not mean that you’re going to fall prey to one of the diseases listed above. As with all single nucleotide polymorphisms, or SNPs (as described in the blog on nutrigenetics), oftentimes there must be an environmental trigger to make the problem manifest. This is the epigenetics part. Most health conditions are multifactorial, meaning something has to happen-- for example, a virus, a motor vehicle accident, or any significant stress in life, for the problem to reveal itself. If an individual has enough weaknesses or SNPs in their entire methylation pathway, it may be enough to cause a disease alone, such as chronic infectious disease or toxic burdens, and this can be enough to have significant effects on the expression of the genetics.
Diseases related to methylation include:
Recurrent pregnancy loss
Midline face defects in a baby
Neural tube defects
Methylation and Cell Production:
The human body makes hundreds of cells per minute, relying on DNA or RNA, which serve as the genetic blueprints to tell them how to be built. The energy for this comes from the mitochondria, which many have learned referred to as the powerhouse of the cell. An inability to build a methyl donor due to mutations in the methylation pathway contributes to a disability for the language to be communicated.
A shortage of methyl donors can paralyze the body of the building blocks needed for DNA and RNA. Cells susceptible to this are those in the bone marrow, red blood cells that carry oxygen, white blood cells that fight infection, and nerve cells. Depletion of the coins for the slot machines or methyl donors can make it almost impossible to recover from stress in these areas. For example, the nervous system has the highest concentration of RNA in the body and the highest needs for methyl donors.
Let's start with methylation and energy. The mitochondria make ATP, a high energy molecule that delivers the information that the DNA needs on how to effectively keep one healthy. Decreased energy production can lead to chronic fatigue, fibromyalgia, heart disease, or nervous system disease. It's the methyl donors from folate that drive the production of energy and the production of CoQ10, which is a necessary agent for production of ATP. Additionally, carnitine, which will be talked about later in a future blog post, and its role in reverse aging and telomeres also requires methyl donors.
Methylation and Pregnancy:
Preconception supplementation with folate helps to prevent miscarriages. Mutations in MTHFR genes, as well as problems with methylation of B12, lead to neural tube defects like anencephaly and spina bifida. They are also risk factors for a child having down’s syndrome. Supplementing with folate during pregnancy helps decrease the risk of neural defect by not changing DNA, but by altering the post-it notes or changing DNA expression.
If you have genetic weaknesses in adding the methyl donor or coin to the folate, just taking folate alone may not be enough to overcome those and won’t do anything to prevent problems in the newborn. Taking a DNA sample to check all pieces of the methylation pathway will help you to know how to supplement with the right form of folate to reduce the risk of neural defects and other folate-related disorders in the newborn. Remember, like mother, like child. If a mother is known to have multiple methylation mutations, it's often beneficial to know the methylation genetics of the child in order to supply appropriate nutrients before the environment kicks in, insult is added, and the child's methylation pathway becomes weak. If the methylation pathway is working properly from day one, it will help with myelination of nerves (the speed at which signal travels down the nerves), immune regulation and the ability to make new DNA and RNA needed for growing cells in the baby. Another thing to think about is that teenagers go through an intense period of methylation as they're making an immense amount of steroid hormones and growing rapidly. This is often a time when they suffer from attention problems, depression, and anxiety. They often turn to alcohol or drug use to soothe these problems. Adding appropriate methyl donors at the right time in the right amount by knowing they’re genetic mutations may help to curb these symptoms. In the next blog we’ll cover methylation and viruses, aging, environmental toxins, and anesthesia.
© 2020 by Courtney Hunt, MD, PC