Symptoms of MTHFR
What kind of symptoms are associated with the MTHFR gene defects?
There are many different symptoms someone with one or both gene mutations might encounter. Not everyone has the same set of symptoms because there are many other genetic and environmental differences that complicate health. But if you boil it down, there is a key systemic problem that comes from low methylation and it causes three different symptom areas.
Systemic problem: Homocysteine levels are too high due to the fact that not enough Methylfolate is available to convert the Homocysteine into Methionine, SAMe and Glutathione. Think of Methylfolate (L-MTHF or 5-MTHF) as the wizard changing the bad guy (Homocysteine) into good guys (SAMe and Glutathione).
Three symptom areas:
1. Central Nervous System disorders - some of these come from Homocysteine not getting converted into SAMe. SAMe is responsible for creating Serotonin, Dopamine, and Norepinephrine (neurotransmitters responsible for mood, motivation, and to some degree energy levels - if these are low, then Depression is often the result, but even aggression and alcoholism are symptoms sometimes found in men). Pregnant women may encounter extreme Post-partum depression. Also, things like Fibromyalgia, Chronic Fatigue Syndrome, Migraines, IBS (Irritable Bowel Syndrome), Memory loss with Alzheimer's and Dementia and other psychiatric problems can be tied to this issue (OCD, Bipolar, Schizophrenia, and more). These challenges are typically more related to the 1298 gene mutation. A very recent clinical trial (not even published yet) was done by Dr. Fava (July, 2011) showed that giving L-Methylfolate (Metafolin) found in the prescription 'medical food', Deplin, was as effective as the top anti-depressant drugs available today (and without all the side effects).
2. Cardiovascular problems often occur when Homocysteine levels in the body are too high. Heart attack, Stroke, Blood clots, Peripheral neuropathy, Anemia even Miscarriages and Congenital birth defects can be related to this issue among others. These problems are typically more related to the 677 gene mutation, but the worst is for a person who has one 677 variant and one 1298 variant.
3. Environmental poisoning can increase when not enough Homocysteine gets converted into Glutathione. Glutathione is responsible for detoxifying the body of the heavy metals we encounter in the environment - it is our body's most powerful antioxidant. When a body gets too burdened by heavy metals and toxins, a lot of unexpected health problems emerge. Some symptoms of this can be: nausea, diarrhea, abdominal pain, liver and kidney dysfunction, hypertension, tachycardia, pulmonary fibrosis, asthma, immune problems, hair loss, rashes and more.
Sometimes diseases/disorders fall under a 'two-pronged' cause, meaning the causes of it stem from both genetic and environmental problems). Autism is a big one that falls into this 'two-pronged' cause category [American Journal of Biochemistry and Biotechnology, 2008] along with Fibromyalgia, Chronic Fatigue Syndrome and more. MTHFR is at the top of a list of 16 genetic defects for autism. Another study showed 98% of children with autism had one or both of the MTHFR gene defects (677 and/or 1298). A recent clinical study indicated that mothers with MTHFR who didn't take folate during pregnancy were 7 times more likely to have an autistic child than mothers without the MTHFR gene defect [Epidemiology, July 2011, Vol. 22, Issue 4, pgs 476-485]. Colon and gastric cancers also have key links to the MTHFR gene defects, just do an internet search on 'MTHFR and colon cancer' or 'MTHFR and gastric cancer' and you will find many clinical studies and articles on the subject.
More information on symptoms and treatments of MTHFR from Dr. Stephen Smith
How can I get some relief from these kinds of symptoms? Check out Purchase Methyl-Life
Doctor Explains MTHFR