COMPENDIUM ON FUNCTIONAL MEDICINE - Flipbook - Page 213
Research suggests that individuals with the FTO risk allele might
benefit particularly from higher protein diets and regular physical
activity [36].
PEMT (Phosphatidylethanolamine N-Methyltransferase)
Function: The PEMT gene encodes an enzyme that produces
phosphatidylcholine, a phospholipid critical for cell membrane
integrity, bile production, and fat metabolism [37].
Key Variant:
PEMT G523A (rs7946)
Affects the activity of the PEMT enzyme, particularly relevant in
women as estrogen activates PEMT. Postmenopausal women and
men with this variant may have greater need for dietary choline.
Impact: PEMT variants have been associated with:
● Increased risk of fatty liver disease when choline intake is
inadequate
● Potential for gallbladder issues and bile flow problems
● Susceptibility to SIBO (Small Intestinal Bacterial Overgrowth)
● Higher dietary choline requirements, especially during
pregnancy
CBS (Cystathionine Beta-Synthase)
Function: The CBS gene encodes an enzyme involved in the
transsulfuration pathway, which converts homocysteine to
cystathionine [38]. This is critical for glutathione production and
detoxification processes.
Key Variant:
CBS C699T (rs234706)
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