Understanding the BHMT Gene

The BHMT gene provides instructions for making the betaine homocysteine S-methyltransferase (BHMT) enzyme

The BHMT gene is a crucial component of the methionine cycle, responsible for encoding the betaine homocysteine S-methyltransferase (BHMT) enzyme. This enzyme plays a vital role in homocysteine metabolism, facilitating the conversion of homocysteine to methionine using betaine as a methyl donor. The BHMT gene is located on chromosome 5q13.1-5q15 and consists of 406 amino acids. This genetic blueprint ensures the proper functioning of the BHMT enzyme, which is essential for maintaining balanced homocysteine levels in the body.

The BHMT enzyme plays a crucial role in homocysteine metabolism

The BHMT enzyme is a key player in the methionine cycle, responsible for the remethylation of homocysteine to form methionine. This process is essential for maintaining normal homocysteine levels in the body. Elevated homocysteine levels have been linked to various health issues, including cardiovascular disease, neurological disorders, and neural tube defects. Additionally, the BHMT enzyme is involved in the metabolism of methyl folate, a critical component of the folate cycle. Proper functioning of the BHMT enzyme ensures that homocysteine is efficiently converted, preventing the accumulation of this potentially harmful amino acid.

Impaired BHMT activity can disrupt methionine synthase and lead to elevated homocysteine levels

Impaired BHMT activity can disrupt the methionine cycle, leading to elevated homocysteine levels. This can occur due to genetic variants, nutritional deficiencies, or other factors that affect BHMT function. Elevated homocysteine levels can cause a range of health problems, including cardiovascular disease, neurological disorders, and neural tube defects. Methionine synthase, another key enzyme in the methionine cycle, can also be affected by impaired BHMT activity, leading to further disruptions in homocysteine metabolism. Ensuring optimal BHMT activity is crucial for maintaining overall health and preventing these adverse effects.

What are betaine homocysteine methyltransferase (BHMT) gene mutations?

BHMT (betaine homocysteine methyltransferase) acts as a shortcut through the methylation cycle by helping convert homocysteine to methionine. The activity of the enzyme can be negatively influenced by stress. Information on this enzyme related to methylation is mostly based on Dr. Amy Yasko’s clinical experience and research on genetic polymorphisms.

According to Dr. Yasko, a homozygous mutation of BHMT 01, BHMT 02, and BHMT 04 can produce results similar to one with a CBS up-regulation, even if you don’t have a CBS upregulation. In her book, Autism: Pathways to Recovery, she also states that a BHMT 08 mutation may “increase MHPG levels relative to dopamine breakdown (HVA)”. This can result in attention type symptoms. It is also common to see elevated glycine in someone with a homozygous BHMT 08 mutation.

BHMT problems / Symptoms of elevated homocysteine levels

• Problem with gut function

• Neural tube defects

• Liver detoxification problems

• Homocysteine imbalances

TMG (Trimethylglycine or Betaine) deficiency – problems with gut function, and high homocysteine. But also the poor conversion of homocysteine to methionine. Monitoring folate levels in individuals with BHMT gene mutations is crucial as it can influence homocysteine levels and overall health.

Methionine deficiency – fat accumulation, fatty liver, lowered glutathione production, build up of toxins, and cardiovascular problems. So it raised inflammatory histamine, poor memory, lowered immunity, and UTI. It also reduced the same production.

Glycine deficiency – Low energy, blood sugar imbalance, fatigue, hypoglycemia, anemia, and chronic fatigue syndrome (CFS). But also digestive problems, seizure, depression, memory problems, Schizophrenia, Parkinson’s disease, and Huntington’s disease

Serine deficiency – Brain function, nervous system, immune system, and chronic fatigue syndrome (CFS). But also depression, insomnia, confusion, anxiety, and fibromyalgia.

Threonine deficiency – Cardiovascular problems, liver, central nervous system, immune system, and liver failure (fatty liver). But also depression, Amyotrophic Lateral Sclerosis (ALS).

Zinc deficiency symptoms – Poor sense of taste or smell, and white marks on more than two fingernails. Frequent infections, stretch marks, acne or greasy skin, low fertility, pale skin, tendency to depression, loss of appetite. Signs and symptoms of zinc deficiency observed in children are growth retardation. (caused by inadequate cell division needed for growth), skeletal abnormalities (from impaired development of epiphyseal cartilage. But the defective collagen synthesis or cross-linking), poor wound healing, and diarrhea. Skin rash/lesions/dermatitis (especially around body orifices), and delayed sexual maturation.

Some signs and symptoms of deficiency in adults include anorexia, diarrhea, lethargy, and depression. Skin rash/lesions/dermatitis, hypogeusia (blunting of sense of taste), alopecia (hair loss), and impaired immune function. Protein synthesis, and wound healing. Some population groups—especially the elderly, children of low income, vegetarians. Those with alcoholism— have been found to consume less than adequate amounts of zinc. Conditions associated with an increased need for intake include trauma, sickle cell anemia, and malabsorption.

Some individuals may not exhibit symptoms, while others may experience severe health problems

The severity of health problems caused by impaired BHMT activity and elevated homocysteine levels can vary widely between individuals. Some individuals may not exhibit any symptoms, while others may experience severe health problems. Factors such as genetic variants, nutritional deficiencies, and lifestyle choices can influence the severity of health problems caused by impaired BHMT activity. It is essential to maintain optimal BHMT function and homocysteine levels to prevent these health issues. Regular monitoring and appropriate interventions can help manage and mitigate the risks associated with elevated homocysteine levels.

BHMT Liver Detox – Phase 2

• BHMT A7961G

•  R239Q

• BHMT -02 C13813T

• BHMT -08 C6457T

Methylation & Methionine Metabolism / Homocysteine Pathways

• BHMT A7961G

• R239O

• BHMT -02 C13813T

• BHMT -08 C6457T

Elevated homocysteine levels act as a risk factor for various health issues, including heart disease. Understanding how homocysteine functions as a risk factor and the biological mechanisms that may mitigate its effects is crucial.

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