An independent researcher, Richard van Konynenburg, PhD., developed a hypothesis that a genetic defect* which causes MTHFR deficiency might be a fundamental cause of ME/CFS and similar illnesses. Rich's hypothesis was based on Dr. Amy Yasko's work related to the same genetic defect in autistic children.
Essentially, Rich's hypothesis says that the MTHFR genetic defect impairs the body's methylation pathway and consequently its ability to manufacture glutathione, and that an insufficient level of this essential amino acid compound in the body can result in many metabolic dysfunctions. These dysfunctions manifest in diverse symptoms, including fatigue, cognitive impairment, pain, thyroid dysfunction (low body temperature, intolerance of heat and cold), low cortisol levels, low blood volume, poor elimination of toxins and many others associated with ME/CFS and other chronic but poorly understood illnesses.
Tuesday, March 12, 2013
Thursday, January 10, 2013
MTHFR Deficiency and Defective Genes (Updated 1/21 and 5/2/13)
Mutated Genes and Me ... and Maybe You?
Recently, thanks to a suggestion by a treasured friend, I found out that I have a genetic defect which results in something called MTHFR deficiency. This mutation can cause a wide range of symptoms:
MTHFR Mutations and the Conditions they Cause - from MTHFR.net, Dr. Ben Lynch's site
Symptoms of MTHFR Deficiency - from Methy-Life.com, Jaime Horne's site
Some of the symptoms include depression, addictions (smoking, drugs, and alchohol), miscarriages (my poor mother had four!), Chronic Fatigue Syndrome, chemical sensitivities, Fibromyalgia (if I recall correctly, my older sister had this), autism (I suspect I may have a relatively mild form of Asperger's), childhood cognitive development deficits, migraines, Alzheimer's, and dementia (poor Mom again!)