MTHFR Mutations and the Conditions They Cause
http://mthfr.net/mthfr-mutations-and-the-conditions-they-cause/2011/09/07/
Updated: November 16, 2012
- Autism
- Addictions: smoking, drugs, alcohol
- Down’s syndrome
- Miscarriages
- Pulmonary embolisms
- Depression in Post-Menopausal Women
- Schizophrenia
- Fibromyalgia
- Chronic Fatigue Syndrome
- Chemical Sensitivity
- Parkinson’s
- Irritable Bowel Syndrome
- Pre-eclampsia
- Stroke
- Spina bifida
- Esophageal Squamous cell carcinoma
- Acute Lymphoblastic Leukemia
- Vascular Dementia
- Bipolar disorder
- Colorectal Adenoma
- Idiopathic male infertility
- Blood clots
- Rectal cancer
- Meningioma
- Glioma
- Congenital Heart Defects
- Infant depression via epigenetic processes caused by maternal depression
- Deficits in childhood cognitive development
- Gastric Cancer
- Migraines with aura
- Low HDL
- High homocysteine
- Post-menopausal breast cancer
- Atherosclerosis
- Oral Clefts
- Type 1 Diabetes
- Epilepsy
- Primary Closed Angle Glaucoma
- Alzheimer’s
- Tetralogy of Fallot
- Decreased telomere length
- Potential drug toxicities: methotrexate, anti-epileptics
- Cervical dysplasia
- Increased bone fracture risk in post-menopausal women
- Multiple Sclerosis
- Essential Hypertension
- Differentiated Thyroid Carcinoma
- Prostate Cancer
- Premature Death
- Placental Abruption
- Myocardial Infarction (Heart Attack)
- Methotrexate Toxicity
- Nitrous Oxide Toxicity
- Heart Murmurs
- Tight Anal Sphincters
- Tongue Tie
- Midline Defects (many are listed above)
- Behcet’s Disease
- Ischemic Stroke in Children
- Unexplained Neurologic Disease
- Asthma
- Shortness of Breath
“I believe the MTHFR gene mutation is a highly significant public health problem that is completely ignored. Yet, millions are suffering from pulmonary embolisms, addictions, fibromyalgia, miscarriages, schizophrenia, severe depression, cancer and autism to name a few.
What do these conditions have in common?
They all may be linked to a MTHFR gene mutation in the individual expressing these symptoms and health conditions.” Dr. Ben Lynch http://mthfr.net/
“What does the MTHFR gene do?
The MTHFR gene codes the enzyme methylenetetrahydrofolate reductase. This enzyme reduces b9 (folate in natural form or folic acid in supplemental form) into 5-MTHF. 5-MTHF interacts with homocysteine and methionine to produce SAMe. SAMe is a critical methyl donor crucial to the body's detoxification. Also, because SAMe is created from homocysteine, it automatically reduces homocysteine levels.What it is: What happens when the mthfr mutation occurs?
When a person has a damaged MTHFR gene, that gene has reduced ability to process folate. This is usually not a severe problem with just one damaged copy, although there is emerging research that may prove otherwise. Having two damaged copies, however, can result in severe folate deficiency.”http://www.squidoo.com/mthfr-gene-mutation-what-is-it-and-why-you-should-care
“What does the MTHFR mutation do? Having a MTHFR mutation means that the enzyme that converts folic acid into its activated form (5-MTHF) acts in a sluggish manner. Having two defects at the same point makes it more sluggish than just having one. As taught in basic chemistry, enzymes are the “rate limiting factor” to any biochemical reaction. Thus when an enzyme is sluggish, the biochemical reaction that relies upon it occurs slower than it should. When one pathway is working slower than others, the other pathways that depend upon it either back up or find a detour to shunt their excess product. Similar to what you may see on a highway, detour pathways are usually not as efficient, using more energy (ATP), and are prone to back ups, often causing new problems to be managed.
The MTHFR enzyme metabolizes folic acid into 5-MTHF, needed to combine with homocysteine to break it down and to facilitate methylation processes in the body. Thus, what is often seen with MTHFR mutations are: elevated homocysteine levels and defective methylation.* High homocysteine is associated with increased heart disease risk, strokes and blood clots. When the MTHFR mutation is correctly supported through vitamin supplementation (nutritionally bypassing the mutated enzyme and redirecting the pathway with B12 and sometimes P5P), homocysteine levels decrease, often quickly and dramatically, and patients see results clinically.
Methylation is required for many processes in the body, from breaking down histamine, serotonin and dopamine to turning DNA on and off. Consequently, having a defective methylation capability is associated with psychiatric illnesses, such as schizophrenia, depression and bipolar, as well as autoimmunity disorders, ADD, autism, spina bifida, Down’s syndrome, miscarriages, and cancer. Defective methylation can come from not having the 5-MTHF or not having enough B12, so the disorders and symptoms associated with the MTHFR mutations often overlap with those due to B12 deficiency. Many may simultaneously have deficiencies in both. As B12 helps to redirect the detour to the more efficient pathway, I always recommend that my patients with MTHFR mutations take both 5-MTHF and B12.
I find that knowing your MTHFR status is far more empowering than it is scary. Rather than keeping your head in the sand, it allows you to provide your body with what it needs to function most efficiently and hopefully prevent disease. Finding that you have a mutation, or even two, also encourages you to get your other family members tested. Parents and siblings may likely also carry this mutation and often benefit greatly from the additional knowledge and support.”
http://healingthewholechild.com/2012/03/01/mthfr-mutations/“If we can prevent the turning on of the MTHFR gene mutation in unborn infants, how huge would that be? MASSIVE.
If we can reduce mental illness, addictions, cancer and cardiovascular disease related deaths, how huge would that be? MASSIVE.
If we can get MTHFR mutations on the map and get standardized medicine to begin screening for it, we can truly make a difference. The lab test to determine which MTHFR mutations are present is only about $150.00. That is nothing.” Dr. Ben Lynch http://mthfr.net/
