Updated: Apr 19
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.