PEMT Gene Mutations: Choline & Phospholipids

PEMT (phosphatidylethanolamine methyltransferase) is a gene that is important for the formation of the nutrient phosphatidylcholine (PC). Phosphatidylcholine is the most abundant phospholipid.

Phospholipids have a number of very important functions. Some of these include:

  • Component of every cell membrane of the human body
  • Antioxidant properties
  • Brain function, including the formation of many important neurotransmitters such as acetylcholine
  • Liver function - Phospholipids are important for maintaining the balance between other lipids such as triglycerides and cholesterol. Phos. Choline also plays an important role in bile acid production (3).
  • Methylation reactions - More than half of all methylation reactions involve phospholipids
  • Intestinal health - Phosphatidylcholine protects the intestinal mucosal barrier (1, 2) from inflammation.
  • Growth and development - Phospholipids such as choline are critical for growing infants and children.

PEMT encodes an enzyme that converts phosphatidylethanloamine into phosphatidylcholine. Consequently, individuals who have mutations in certain PEMT genes may not produce sufficient phosphatidylcholine. Mutations in some of the PEMT variants have been studied for their role in endometriosis and women's infertility (4). Other PEMT mutations have been studied for their association with non-alcoholic fatty liver disease (5).

Is It Possible To Bypass PEMT Mutations with Nutrition?

Many people interested in nutrigenomics would like to know nutritional means to improving their health, despite certain gene mutations. Sometimes, these are referred to as "bypassing mutations". First, its important to determine if you actually have a deficiency in phosphatidylcholine. This can be determined though certain types of lab testing, such as special plasma lipid tests.

The other important factor to consider is that choline is abundantly found in many whole foods. This includes: egg yolks, sunflower and flax seeds and other nuts and seeds, as well as animal sources such as liver and whole fat dairy products. Another consideration if it's determined one has a greater need for phosphatidylcholine is using whole lecithin. Lecithin derived from soy (preferably non-GMO), or sunflower seeds contain considerably high amounts of phosphatidylcholine.

It may be likely that certain PEMT gene mutations can increase the need for choline. This may be true if one cannot synthesize enough phsphatidylcholine from the PEMT enzyme. In which case, food sources rich in choline (such as those mentioned) is probably the best solution.

PEMT, Methylation & Breast Cancer

An interesting study has found a connection between PEMT enzyme function and breast cancer. Specifically one of the major associated breast cancer gene mutations known as BRCA1, has been found to have a major interaction with PEMT (6). These involve varying degrees of "hypermethylation" and altercations of histone marks, an epigenetic modification. The study found that hypermethylated sites were more prone for estrogen receptivity.

As a methyltransferase, PEMT consumes methyl. One of the primary methyl donors for MT (methyltransferases) is SAMe (S-adeonsyl methionine). It has been known for more than 30 years that abnormal methylation plays a significant role in cancer formation. PEMT enzymes are evidently one important component in BRCA1- related breast cancer cell dynamics.