COMPENDIUM ON FUNCTIONAL MEDICINE - Flipbook - Page 206
Prevalence: The C677T variant is found in about half the
population, with higher frequencies in some ethnic groups,
particularly those of Mediterranean and Hispanic descent .
Clinical Implications:
● Elevated homocysteine levels (hyperhomocysteinemia)
● Increased cardiovascular risk
● Potential neurological and mental health implications
● Pregnancy complications and neural tube defects
● Altered response to B vitamin supplementation
● Potential impacts on detoxification capacity
Methylation Cycle Connections
MTHFR functions at a critical junction in the methylation cycle,
converting 5,10-methylenetetrahydrofolate to
5-methyltetrahydrofolate (5-MTHF), the active form of folate. This
5-MTHF is essential for:
● Converting homocysteine to methionine
● Producing S-adenosylmethionine (SAMe), the body's primary
methyl donor
● Supporting hundreds of methylation reactions throughout the
body
● Neurotransmitter synthesis and metabolism
● DNA methylation and gene expression
A properly functioning methylation cycle is critical for overall
health, and MTHFR variants can create bottlenecks in this process
that affect multiple bodily systems [19].
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