This blog is a way of sharing the information and resources that have helped me to recover my son Roo from an Autism Spectrum Disorder. What I have learned is to view our symptoms as the results of underlying biological cause, which can be identified and healed. I say "our symptoms" because I also have a neuro-immune disorder called Myalgic Encephalomyelitis.

And, of course, I am not a doctor (although I have been known to impersonate one while doing imaginative play with my son)- this is just our story and information that has been helpful or interesting to us. I hope it is helpful and interesting to you!

Tuesday, May 15, 2012

Dr Rawlins on MTHFR

These are my notes for a 4-part presentation on YouTube by Dr Rawlins about MTHFR
(be sure to watch all 4 parts!)

According to Dr Rawlins, MTHFR mutations were first discovered in 1995 as the result of The Human Genome Project.  The 677 mutation was the first one discovered and many studies only account for this one.  The other common mutation, 1298, was discovered in 2001.  The people who are most affected have both the 677 and 1298 and so they have only been recognized within the past 10 years.  The population with the highest incidence of this gene defect is Italy, the population with the lowest level is sub-Saharan Africa.  MTHFR variants are usually called polymorphisms, or SNiPs for single nucleotide polymorphisms.

He references the book MTHFR Polymorphisms and Disease
(I will definitely look into getting this book from the library)

Dietary folate is dihydrofolate, which becomes tetrahydrofolate, which becomes 5, 10 methylene THF, which is THEN converted to the active form L-methylfolate.  The C to T polymorphism limits that last conversion.  Folinic acid doesn't work around the blockage.  People with this issue will test as having enough folic acid, which they do- it's just not getting into the active form. 

If your body can't convert folic acid into it's active form, you can't make adequate neurotransmitters, which can result in anxiety, depression, irritable bowel syndrome, fibromyalgia, CFS, and migraines.  Low methylfolate levels means low levels of serotonin, dopamine, norepiniphrine, glutathione (needed for protection from toxicity and for memory function), and low BH4 which is needed for nerve protection and serotonin function.

30% of people have both genes defective (10-15% of normal function of the enzyme), 40% have one gene defective (55-70% of normal function).  When the function of the enzyme is limited, it can't increase at times of increased need such as infection, puberty, and toxic exposure).

BPA blocks the same pathway.  This means it blocks the making of glutathione.

Folic acid blocks l-methylfolate from crossing the blood-brain-barrier.

MTHFR is an enzyme with two functions, it is necessary for the production of both methylfolate as well as BH4, which is important for protecting nerves from damage from toxins.

When this pathway is partially blocked, heavy metals build up, BPA and other toxins build up.  He mentions mercury in our fillings, also oral contraceptives decrease our levels of methylfolate, as do some diabetes medications. Mercury blocks methionine synthase, the step right after MTHFR in the pathway.

Studies show that when people lose lots of weight, the levels of toxins in their blood skyrockets, and if they can't clear the toxins they often put the weight back on as a way to protect their nerves from the damage of the toxins.  He says one theory of Fibromyalgia is that some people are genetically not able to excrete certain toxins.

A study in India found that low levels of arsenic (within the range considered safe) were found to lead to a 4-fold increase in diabetes, heart disease, stroke and high blood pressure. 

A study showed that 98% of kids with autism have at least one MTHFR gene SNiP.  Two studies that show how important the folate pathway is are one that found that women who did not take prenatal vitamins right before or during pregnancy were twice as likely to have a child with autism, and women with an MTHFR who didn't take folate were 7 times as likely to have a child with autism.  

Berries have the active form of folate.

Recommendations- get rid of as many toxins as possible.  This includes having a water filter, improve metabolism by improving diet.  Take supplements that support your body.  Detox by sweating, sweating gets rid of environmental toxins.  Might be worth testing to see if there is a high mercury load.

Supplement both methylfolate and BH4.  He also suggests taking P5P (active B6) 25 mg per day, he says that if you take too much you get the feeling that there is a tight band around your head.  Also 1 gram of vitamin C per day, 200-250 mg of DMG or TMG every day, 20-40 mg per day of zinc, omega-3s every day, 400 IU of vitamin E.  (I would warn that the vitamin C and DMG/TMG can be problematic for people who are oxalate sensitive).  He also recommends

Interestingly, he says that mathematics and music help to soothe parts of the brain that are thrown off by not having enough serotonin.  This is interesting because so often in families of kids with autism, there are many musicians, engineers and mathematicians.  The Anterior Cingulate Cortex, which is known as your "gear shifter", is regulated by serotonin.  He says that when it's not well regulated it can lead to compulsive behavior.  I wonder about ADHD as well?