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What are MTR/MTRR gene mutations and methionine synthase reductase?
MTRR (Methionine synthase reductase) helps recycle B12 by producing an enzyme called methionine synthase reductase. The combination of MTR and MTRR mutations can deplete methyl B12. MTR A2756G, MTRR A66G, MTRR H595Y, MTRR K350A, MTRR R415T, MTRR S257T, and MTRR A664A all work together to convert homocysteine to methionine.
MTR (5-methyltetrahydrofolate-homocysteine methyltransferase) provides instructions for making the enzyme called methionine synthase. Methionine synthase helps convert the amino acid homocysteine to methionine. To work properly, methionine synthase requires B12 (specifically in the form of methylcobalamin). An MTR A2756G mutation increases the activity of the MTR gene causing a greater need for B12 since the enzyme causes B12 to deplete since it is using it up at a faster rate. Mutations in MTR have been identified as the underlying cause of methylcobalamin deficiency. Megaloblastic anemia can occur as a consequence of reduced methionine synthase activity.
A homozygous mutation of MTR A2756G is not very common (< 1% of CEU population). Some studies have demonstrated that people with a combination of MTHFR C677T and MTR A2756G have persistently high homocysteine levels unless they are treated with both B12 and folate.
Low methionine can result from MTR/MTRR mutations. High methionine with low homocysteine can result from a MTR deficiency. B12 levels less than 600 can result from MTR/MTRR mutation.
MTR/MTRR problems / Symptoms
Methionine deficiency
Methionine deficiency signs – fat accumulation, fatty liver, lowered glutathione production, build up of toxins, cardiovascular problems, rasied inflammatory histamine, poor memory, lowered immunity, UTI, reduced SAMe production.
Vitamin B12 deficiency
Vitamin B12 deficiency signs – Poor hair condition, eczema or dermatitis, mouth oversensitive to heat or cold, irritability, anxiety or tension, lack of energy, constipation, tender or sore muscles, pale skin, megaloblastic macrocytic anemia, decrease in DNA synthesis, heart disease, skin pallor, fatigue, shortness of breath, and palpitations. Neurologic problems, which may be irreparable, are manifested by numbness in extremities, abnormal gait, increased loss of coordination, loss of a sense of relative position (proprioreception), loss of vibration sense or touch in the ankles and toes, swelling of myelinated fibers, and demyelination, along with irritability, memory loss, disorientation, psychosis, and dementia, low blood leukocyte and thrombocyte counts. Pernicious (which refers to death) anemia. Folate deficiency can exacerbate these symptoms, particularly in patients with a history of psychiatric ailments.
Homocysteine builds up in the bloodstream due to mutations in the MTRR and MTR genes, hindering the conversion of homocysteine to methionine. This accumulation is linked to various health issues, including potential risks for developmental disorders.
Understanding genetic predispositions as risk factors is crucial in the context of neurodevelopmental issues and other health outcomes.
MTR/MTRR Methylation & Methionine / Amino Acid Homocysteine Pathways
MTR A*153G
A2756G
MTR A50417C
MTR A68550G
A92580G
MTR C62048T
MTR G106853T
G34783A
MTR G35489C
MTR G74984T
G94982A
MTR G95096T
MTRR -11 A664A
A22893G
MTRR A66G
C1078G
MTRR C32295T
MTRR C524T
G*541A
MTRR G1155A
MTRR G12099A
G15734A
MTRR K350A
MTRR T*662A
T12072C
MTRR T16071C
The folate cycle plays a critical role in vitamin B metabolism and is linked to mental health conditions like schizophrenia. Genetic mutations affecting enzymes involved in the folate cycle can lead to homocysteine accumulation and deficiencies in folic acid, contributing to psychiatric disorder symptoms and affecting treatment outcomes.
The methylation cycle involves genetic factors like the MTR and MTRR genes, which are essential for converting homocysteine to methionine. These genes are crucial in the methylation process, particularly in synthesizing methionine and utilizing methyl-groups effectively. Supplementation must be approached cautiously based on genetic testing.
Mitochondrial Function
MTRR -11 A664A
A22893G
MTRR A66G
C1078G
MTRR C32295T
MTRR C524T
G*541A
MTRR G1155A
MTRR G12099A
G15734A
MTRR K350A
MTRR T*662a
T12072C
MTRR T16071C
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Testing and Evaluation
Testing and evaluation for MTRR gene mutations and related disorders involve a combination of genetic, biochemical, and clinical assessments. Here are some key steps in the testing and evaluation process:
Genetic Testing: Genetic testing for MTRR gene mutations can be performed using various techniques, including PCR (polymerase chain reaction), sequencing, and genotyping. These tests can identify specific genetic mutations in the MTRR gene that may increase the risk of homocysteine-related disorders.
Biochemical Testing: Biochemical testing measures the levels of homocysteine and other related compounds in the blood. Elevated homocysteine levels can indicate issues with the MTRR gene or other genes involved in folate metabolism, signaling potential health risks.
Clinical Evaluation: A thorough clinical evaluation includes a detailed medical history, physical examination, and assessment of symptoms. This helps identify signs of homocysteine-related disorders, such as neural tube defects, cardiovascular disease, and cognitive impairment.
Family History: A family history of homocysteine-related disorders or conditions associated with MTRR gene mutations can be a significant risk factor. Individuals with such a family history may have a higher likelihood of developing similar disorders.
Prenatal Testing: Prenatal testing during pregnancy can identify potential genetic mutations in the fetus. This early detection allows for timely intervention and treatment, reducing the risk of homocysteine-related disorders in newborns.
Treatment and Management
Treatment and management of MTRR gene mutations and related disorders involve a combination of dietary, lifestyle, and medical interventions. Here are some key steps in the treatment and management process:
Folate Supplementation: Folate supplementation is crucial for reducing homocysteine levels and preventing related disorders. Folate can be taken as oral supplements, and consuming folate-rich foods like leafy greens and fortified cereals can support healthy folate metabolism.
Vitamin B12 Supplementation: Vitamin B12 supplementation is equally important in managing homocysteine levels. Vitamin B12 can be taken orally, and incorporating B12-rich foods such as meat and fish into the diet can be beneficial.
Dietary Changes: Adopting a diet rich in fruits, vegetables, whole grains, and lean protein sources can help maintain healthy homocysteine levels. These dietary changes support overall health and folate metabolism.
Lifestyle Modifications: Regular exercise, stress reduction, and adequate sleep are essential lifestyle modifications that can help manage homocysteine levels and prevent related disorders.
Medical Treatment: In cases of severe homocysteine-related disorders, medical treatment may be necessary. This can include medications to lower homocysteine levels and treatments for associated conditions like cardiovascular disease and cognitive impairment.
Prenatal Care: For women with MTRR gene mutations or a family history of homocysteine-related disorders, prenatal care is vital. Early identification of potential risks allows for timely intervention and treatment, ensuring better health outcomes for both mother and baby.
Genetic Counseling: Genetic counseling provides valuable insights for individuals with MTRR gene mutations or a family history of related disorders. It helps them understand their risks and make informed decisions about their health and future.
By following these steps, individuals can effectively manage MTRR gene mutations and reduce the risk of associated health issues.
