Symptoms of a PEMT Gene Mutation and Choline Deficiency

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Common symptoms associated with a PEMT gene mutation and choline deficiency include fatty liver, gallbladder problems, SIBO, poor fat digestion, and difficulty losing weight due to a fatty liver.

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The function of the PEMT gene is to make phosphatidylcholine, which essential to make your cell membranes. Phosphatidylcholine also transports fats out of the liver, thus preventing fatty liver.

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Your body needs the nutrient choline to make phosphatidylcholine, which highest in meat, liver, and eggs. The methyl donor SAMe is the cofactor for the PEMT gene. To make SAMe, you need to have optimal methylation.

Vegans are likely to have a slow PEMT gene even if they do not have a PEMT gene mutation since vegans are more likely to be deficient in the nutrient choline, vitamin B12, and vitamin B2 needed to support methylation and the PEMT gene.

If you are vegan or vegetarian and have gallbladder issues, SIBO, fatty liver, or difficulty digesting fats pay extra attention as you may need a phosphatidylcholine supplement.

Estrogen also stimulates the PEMT gene to make phosphatidylcholine, but during menopause, estrogen levels drop.

Many menopausal women may find it increasingly difficult to lose weight, develop gallbladder problems, increasing intolerance to fats, or develop SIBO due to decreased phosphatidylcholine production.

The function of the PEMT gene

One of the most important jobs of the PEMT gene is to make phosphatidylcholine, which is needed to make healthy cell membranes for EVERY cell in your body, promote bile flow, and transport fats out of the liver!

Every day cells die and need to be replaced. The PEMT gene is constantly working to make healthy cell membranes day in and day out.

Phosphatidylcholine helps keep cell membranes fluid so that nutrients are easily transported inside the cell, and waste is effectively eliminated.

A healthy cell membrane also acts as an external wall protecting the contents inside the cell, such as your mitochondria and DNA, from damage. A pretty darn important job!

The mitochondria are responsible for producing energy in the body and are especially prone to damage if not protected by a healthy cell membrane. In fact, without a cell membrane, the cell will die.

Fatigue is a symptom associated with a PEMT gene mutation and unhealthy mitochondria. Phosphatidylcholine deficiency can lead to unhealthy leaky cell membranes that do not protect your mitochondria very well. As a result, mitochondria become damaged and cannot produce energy efficiently, thus resulting in fatigue.

It is all about connecting the dots then fueling your body with essential nutrients found in whole natural foods so that these crucial enzymes and processes can function optimally.

Primary roles and benefits of phosphatidylcholine in the body

• An essential component of cell membranes
• Phosphatidylcholine is a crucial nutrient required during pregnancy and breastfeeding as anytime you are making a lot of new cells, such as growing a baby, the need for phosphatidylcholine increases
• Phosphatidylcholine is needed for optimal gallbladder health as phosphatidylcholine helps your bile to flow smoothly out of the gallbladder to aid in fat digestion and liver detoxification
• Phosphatidylcholine is crucial to prevent small intestinal bacterial overgrowth and all the gut health issues associated with SIBO. Phosphatidylcholine promotes bile flow, and bile is ANTIMICROBIAL.
• Bile is one of your bodies natural defenses to prevent SIBO and optimize the terrain (this is HUGE)
• Phosphatidylcholine also helps to transport fats out of the liver. If someone is deficient in phosphatidylcholine or has a PEMT gene mutation, non-alcoholic fatty liver can develop​
• Phosphatidylcholine is also essential for nerve function, muscle movement, and brain development.

Common PEMT gene mutation symptoms or phosphatidylcholine deficiency include:

• Poor fat digestion
• Fatigue
• Sluggish gallbladder
• Inflammation (leaky cell membranes leak contents out of the cell, thus upregulating the immune system causing inflammation)
• Muscle pain or soreness
• SIBO
• Elevated triglycerides
• Fatty liver

Phosphatidylcholine for weight loss and insulin resistance

A fatty liver is an underlying cause of insulin resistance and difficulty losing weight. So, if you are doing everything right yet the excess weight will not budge, a fatty liver due to poor methylation, SNPs in the PEMT gene, or choline deficiency may be the reason why you can’t lose the excess weight.

This post explains how you can lose weight with an MTHFR gene mutation and improve methylation.

The liver is often struggling in people who have excess weight and insulin resistance. Phosphatidylcholine is crucial for liver health by stimulating phase three detoxification by promoting bile flow.

Phosphatidylcholine also transports fats out of the liver to prevent the accumulation of fats in the liver.

Fatty liver leads to insulin resistance as there is very little room for glycogen (the stored form of sugar) to be stored. When there is no room for glucose to be stored in the liver due to a fatty liver, insulin resistance begins to develop in the liver, and blood sugar levels rise.

Phosphatidylcholine is required for the assembly of and secretion of VLDL fats from the liver. Without adequate phosphatidylcholine, fat and cholesterol accumulate in the liver. Phosphatidylcholine helps with weight loss by preventing fatty liver. 

How phosphatidylcholine improves bile flow and bowel movements

One of the most common improvements that I see in clients I have worked with when supplementing with phosphatidylcholine is improved bowel movements.

The reason for improvements in bowel movements is because phosphatidylcholine stimulates bile flow. Bile then stimulates peristalsis of the intestinal tract, which helps to relieve sluggish bowels.

Constipation or suboptimal bowel movements are often associated with a sluggish gallbladder, phosphatidylcholine deficiency, and SNPs in the PEMT gene.

Reversing fatty liver and improving liver detoxification and bowel movements are crucial for weight loss and optimal vitality for anybody!

Phosphatidylcholine is also necessary for preventing and healing leaky gut. The cells lining the intestine are one cell layer thick and replaced every few days. And what does every cell need? A healthy cell membrane and a well-functioning PEMT gene to produce phosphatidylcholine.

Your skin cells are also replaced every few weeks, and new healthy skin cells require an ample supply of phosphatidylcholine.

Muscle pain and weakness are also associated with poorly functioning cell membranes as muscle cell membranes are fragile. When cell membranes break down, the decline triggers inflammation and sore muscles.

Best supplement for the PEMT gene

The best supplement to support the PEMT gene is a phosphatidylcholine supplement such as Optimal PC or Optimal PC Liquid by Seeking Health.

Both supplements contain ample amounts of phosphatidylcholine. Optimal PC is in a capsule form, and Optimal PC Liquid is a thick liquid. When trying a new supplement for the first time, always start with a lower dose and then increase as needed. Adjusting the dosage can easily be accomplished with the Optimal PC Liquid.

Phosphatidylcholine was my ‘magic nutrient’ and is one of my favorite nutrients for all the reasons noted above.

I used phosphatidylcholine to improve my fat digestion and beat my SIBO symptom of acid reflux.

Foods to support the PEMT gene

The two nutrients required for the PEMT gene to function are choline and the methyl donor SAMe.

Foods rich in choline include liver, eggs, soybean lecithin, sunflower lecithin, chicken, beef, salmon, cod, shitake mushrooms, and soy flour, which are the highest choline foods.

Additional choline food sources lower in choline include lima beans, lentils, mung beans, chickpeas, flaxseeds, peas, sundried tomatoes, Brussel sprouts, beets, and broccoli.

According to Dr. Ben Lynch, 70% of the SAMe produce by your methylation cycle is used by your PEMT gene to make phosphatidylcholine. This only leaves 30% of the SAMe produced for the other 200 plus process that depends upon SAMe to function.

Using a phosphatidylcholine supplement bypasses the PEMT gene by supplying the end product and taking the workload off the PEMT gene and methylation. By supporting the PEMT gene with phosphatidylcholine, SAMe can better support the other 200 other processes in the body.

Your PEMT gene is so important that 70% of methylation is used to phosphatidylcholine.

To support the methylation cycle and the production of SAMe, you need additional nutrients such as vitamin B2 and folate for the MTHFR gene plus vitamin B 12, magnesium, and zinc.

Eating foods with choline and nutrients needed for methylation is crucial for the ability of the PEMT gene to function optimally and prevent fatty liver, SIBO, gallbladder problems, insulin resistance, and fat malabsorption.

References:

Dirty Genes by Dr Ben Lynch

Shiecon 2017 

Methylation and Clinical Nutrigenomics Part 1

Methylation and Clinical Nutrigenomics Part 2

Hepatic PEMT activity mediates liver health, weight gain and insulin resistance

​Choline supplementation protects against liver damage by normalizing cholesterol metabolism in Pemt/Ldlr knockout mice fed a high-fat diet.
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Choline