MTRR Gene: Everything You Need To Know

What is the MTRR Gene?

Methionine synthase reductase (MTRR) is an essential enzyme gene that plays a crucial role in the folate and methionine cycles, which are vital for DNA synthesis and repair, cellular function, and overall health. The MTRR gene provides the blueprint for the production of this enzyme, which ensures that methionine synthase retains its active form and that the conversion of homocysteine to methionine occurs efficiently.

The Role of the MTRR Gene in the Human Body

The MTRR gene, or methionine synthase reductase gene, is pivotal for normal human health. This gene contains instructions for the creation of an enzyme called methionine synthase reductase, which plays a vital role in the process of methylation in our body.

MTRR Gene and Methylation Process

The methylation process, facilitated by the MTRR enzyme, is crucial in various biological functions such as DNA synthesis, detoxification, energy production, immune response, and maintenance of DNA. The methylation process helps regulate gene expression and plays a role in DNA repair.

MTRR Gene and the Folate and Methionine Cycles

The MTRR gene is specifically important in the folate and methionine cycles. The folate cycle is essential for creating DNA and RNA, while the methionine cycle is critical for protein synthesis. These cycles are interconnected and work together to maintain cellular function and overall health. The MTRR enzyme ensures that methionine synthase retains its active form to efficiently convert homocysteine to methionine, a necessary step in these cycles.

The Impact of MTRR on Homocysteine Levels

One crucial aspect of the MTRR gene’s function is its role in regulating homocysteine levels in the body. Homocysteine is a common amino acid in your blood that, when present in high levels, can lead to heart disease and other health problems. The MTRR gene ensures the conversion of homocysteine to methionine, thus preventing its build-up and potential harm.

**What is an MTRR Gene Mutation?**

A mutation in the MTRR gene can lead to reduced activity or total loss of the MTRR enzyme, disrupting the regular function of the folate and methionine cycles. One common variant is the MTRR A66G mutation, which has been linked to elevated levels of homocysteine, a non-protein amino acid. High levels of homocysteine are often associated with cardiovascular diseases, birth defects, and other health issues.

**What is the MTRR A66G Gene Mutation?**

The MTRR A66G mutation is a common single nucleotide polymorphism (SNP) wherein adenine (A) is replaced with guanine (G) at position 66 of the MTRR gene. This mutation has been associated with elevated homocysteine levels, as it impacts the functioning of the methionine cycle.

**Is the MTRR Gene Mutation Clinically Significant?**

The clinical significance of the MTRR gene mutation is not fully understood and is still a subject of scientific investigation. However, several studies have indicated that individuals with the MTRR A66G mutation may have an increased risk of elevated homocysteine levels, cardiovascular diseases, and birth defects like neural tube defects.

**What are the Symptoms of the MTRR Gene Mutation?**

Symptoms of an MTRR gene mutation can vary and may include:

High homocysteine levels
Fatigue
Weakness
Cardiovascular complications
Potential for neural tube defects in offspring

**How to Know if You Have an MTRR Gene Mutation**

Genetic testing is the most definitive way to determine if you have an MTRR gene mutation. Such tests usually involve the collection of a DNA sample, typically through a cheek swab or saliva sample, which is then analyzed in a laboratory.

Check your AncestryDNA, 23andMe Raw Data for the MTRR Gene Variations

**How to Test for an MTRR Gene Mutation**

Genetic testing for the MTRR gene mutation can be performed by a healthcare provider or through a direct-to-consumer genetic testing kit. The test analyzes your DNA for specific variants in the MTRR gene.

**What Causes an MTRR Gene Mutation?**

MTRR gene mutations are inherited and passed on from parents to their children through their DNA. They occur when there is a change in the DNA sequence that makes up the gene.

**Does 23andme Test for the MTRR Gene?**

23andme does not specifically report on the MTRR gene mutation in their health predisposition reports. For the most accurate and updated information, consider visiting the official 23andme website or contacting their customer service.

Summary

1. What is the MTRR gene? The MTRR gene is responsible for the production of the MTRR enzyme, vital for DNA synthesis and repair.

2. How does an MTRR gene mutation affect health? MTRR gene mutation can lead to elevated homocysteine levels, which may increase the risk of cardiovascular diseases and birth defects.

3. Can genetic testing determine an MTRR gene mutation? Yes, genetic testing can be used to detect an MTRR gene mutation.

4. Does 23andme test for MTRR gene mutation? 23andme does not specifically report on the MTRR gene mutation.

References

Froese, D. S., & Gravel, R. A. (2010). Genetic disorders of vitamin B12 metabolism: eight complementation groups – eight genes. Expert reviews in molecular medicine, 12, e37. https://doi.org/10.1017/S1462399410001667
Wilson, A., Platt, R., Wu, Q., Leclerc, D., Christensen, B., Yang, H., … & Rozen, R. (1999). A common variant in methionine synthase reductase combined with low cobalamin (vitamin B12) increases the risk for spina bifida. Molecular genetics and metabolism, 67(4), 317-323.
Sharma, M., & Tiwari, M. (2017). Association between MTRR A66G polymorphism and congenital heart disease: a systematic review and meta-analysis. Congenital heart disease, 12(6), 718-724.
Ma, J., Stampfer, M. J., Hennekens, C. H., Frosst, P., Selhub, J., Horsford, J., … & Hunter, D. J. (1996). Methylenetetrahydrofolate reductase polymorphism, dietary interactions, and risk of colorectal cancer. Cancer Research, 56(3), 486-488.
23andme.com. (2021). Health Predisposition Reports