WHAT IS MTHFR?
MTHFR is an enzyme in the methylation cycle that converts 5,10MTHF to 5-MTHF Methylene-tetrahydrofolate reductase, basically the conversion of inactive vitamin B9 to active vitamin B9. The MTHFR enzyme is vital for many biochemical processes in the body and is a major player in the methylation cycle. A genetic problem interferes with your body’s ability to break down folates and folic acid into methylfolate, leading to a decrease in methylfolate production, methyl B12 production, and SAMe (S-Adenosyl Methionine). Deficiencies in active folate (methylfolate) can cause many chronic neurological and metabolic health condition. Those with a mutation may experience heart disease, inflammation, difficult pregnancies, birth defects, and have trouble detoxifying (as mentioned above). Oftentimes, these mutations cause difficulty with processing folic acid into methyl-folate, which is critical to methylation. Methylation optimizes some important processes in your body including metabolism of hormones and production of DNA. Depending on the mutation variations, you could have trouble converting nutrients into vitamins, minerals, and proteins, and maintaining appropriate hormone and neurotransmitter levels. It can even affect cholesterol levels, brain function, and digestion.
MTHFR is an enzyme in the methylation cycle that converts 5,10MTHF to 5-MTHF Methylene-tetrahydrofolate reductase, basically the conversion of inactive vitamin B9 to active vitamin B9. The MTHFR enzyme is vital for many biochemical processes in the body and is a major player in the methylation cycle. A genetic problem interferes with your body’s ability to break down folates and folic acid into methylfolate, leading to a decrease in methylfolate production, methyl B12 production, and SAMe (S-Adenosyl Methionine). Deficiencies in active folate (methylfolate) can cause many chronic neurological and metabolic health condition. Those with a mutation may experience heart disease, inflammation, difficult pregnancies, birth defects, and have trouble detoxifying (as mentioned above). Oftentimes, these mutations cause difficulty with processing folic acid into methyl-folate, which is critical to methylation. Methylation optimizes some important processes in your body including metabolism of hormones and production of DNA. Depending on the mutation variations, you could have trouble converting nutrients into vitamins, minerals, and proteins, and maintaining appropriate hormone and neurotransmitter levels. It can even affect cholesterol levels, brain function, and digestion.
Common MTHFR Gene Variant Symptoms
The effects of MTHFR mutations can be wide-ranging. The most common health problems associated with methylation gene mutations include:
|
|
What are the MTHFR Genetic Defects?
There are various polymorphisms (or SNPs) that can occur on the MTHFR gene, they are named for the number position on the gene. The letters stand for one of the nucleobases (Guanine, Adenine, Thymine, Cytosine). Defects can occur in two different places on the gene - C677T or A1298C.
You can have the following two common MTHFR genetic mutations:
C677T
Heterozygous +/- --- 40% reduction in MTHF production
Homozygous +/+ --- 75% reduction in MTHF production
A1298C
Heterozygous +/- --- 20% reduction in MTHF production
Homozygous +/+ --- 40% reduction in MTHF production
Compound Heterozygous (677/1298)
50-60% reduction in MTHF production
(Heterozygous – one normal gene, one affected gene)
(Homozygous – one gene from mom, one gene from dad)
The more polymorphisms, typically the more significant the problem.
Its all about making Glutathione and SAM, the body’s key antioxidant and methyl donor respectively. MTHFR mutations cause low Glutathione, causing more toxicity and higher oxidative stress – chronic neurological and metabolic conditions.
A FEW STATISTICS OF MTHFR MUTATIONS
HOW TO ADDRESS MTHFR & OTHER METHYLATION MUTATIONS
There are various polymorphisms (or SNPs) that can occur on the MTHFR gene, they are named for the number position on the gene. The letters stand for one of the nucleobases (Guanine, Adenine, Thymine, Cytosine). Defects can occur in two different places on the gene - C677T or A1298C.
You can have the following two common MTHFR genetic mutations:
C677T
Heterozygous +/- --- 40% reduction in MTHF production
Homozygous +/+ --- 75% reduction in MTHF production
A1298C
Heterozygous +/- --- 20% reduction in MTHF production
Homozygous +/+ --- 40% reduction in MTHF production
Compound Heterozygous (677/1298)
50-60% reduction in MTHF production
(Heterozygous – one normal gene, one affected gene)
(Homozygous – one gene from mom, one gene from dad)
The more polymorphisms, typically the more significant the problem.
Its all about making Glutathione and SAM, the body’s key antioxidant and methyl donor respectively. MTHFR mutations cause low Glutathione, causing more toxicity and higher oxidative stress – chronic neurological and metabolic conditions.
A FEW STATISTICS OF MTHFR MUTATIONS
- Over 70% of children with Autism Spectrum Disorders have MTHFR mutations
- Over 60% of mothers who gave birth to a child with Down Syndrome have MTHFR mutations
- Approximately 45% of the population has 1 copy of the MTFHR C66T genetic mutation
HOW TO ADDRESS MTHFR & OTHER METHYLATION MUTATIONS
- Supplement with what your body isn’t creating. Based on genetic testing, one can determine what is needed to bypass or support a specific mutation or SNP, as well as determining if any additional cofactors or substrates are needed
- Remove underlying chronic infections such as: Lyme, bacteria, viruses, parasites, and yeast
- Address Heavy Metal Toxicity
- GI function & Detoxification is key
- Follow up testing and monitor improvement
Complexity of These Cycles
WHAT IS METHYLATION?
The body deals with stress through a process called methylation. Methylation has three primary functions:
The body deals with stress through a process called methylation. Methylation has three primary functions:
- Promotes Detoxification
- Control Inflammation
- Balances Neurotransmitters
THE IMPORTANCE OF METHYLATION...
Did you ever wonder WHY all of a sudden someone develops a neurodegenerative disorder, Autism or ADD, heart disease, an autoimmune condition, suffer a stroke or even...develop cancer?
Did it just drop down out of the sky and land on their head? No! They expressed a “mutated gene!”
How do you express “mutated genes” like autoimmune, Autism, MS, ALS, Parkinson’s, heart disease or cancer?
The answer is depleted methyl groups! Depletion of your body’s methyl groups is how “mutated” genes are expressed.
How are methyl groups in our body depleted? By consuming a poor diet loaded with “white death”—white sugar, white flour, and white salt, “bad oils”—trans-fatty acids and hydrogenated oils, produce loaded with pesticides and herbicides, junk food, drinks loaded with caffeine, high-fructose corn syrup and acid, genetically-modified foods, and high levels of emotional stress!
Methylation is VERY important for the following processes to occur in our body.
Did you ever wonder WHY all of a sudden someone develops a neurodegenerative disorder, Autism or ADD, heart disease, an autoimmune condition, suffer a stroke or even...develop cancer?
Did it just drop down out of the sky and land on their head? No! They expressed a “mutated gene!”
How do you express “mutated genes” like autoimmune, Autism, MS, ALS, Parkinson’s, heart disease or cancer?
The answer is depleted methyl groups! Depletion of your body’s methyl groups is how “mutated” genes are expressed.
How are methyl groups in our body depleted? By consuming a poor diet loaded with “white death”—white sugar, white flour, and white salt, “bad oils”—trans-fatty acids and hydrogenated oils, produce loaded with pesticides and herbicides, junk food, drinks loaded with caffeine, high-fructose corn syrup and acid, genetically-modified foods, and high levels of emotional stress!
Methylation is VERY important for the following processes to occur in our body.
- DNA/RNA synthesis (turning on/off genes)
- Brain chemical production (e.g. dopamine and serotonin)
- Hormonal breakdown (e.g. estrogen and testosterone)
- Creation of immune cells (e.g. NK cells and T-cells)
- Creation of protective coating on nerves (i.e. myelin formation)
- Processing of chemicals and toxins (detoxification)
- Produces Energy
When poor methylation occurs in our body, here is what can happen.
The MTHFR gene & other methylation mutations have been associated with multiple neurological and metabolic conditions.
|
|