Category
Theoretical Proposal
Description
Methylenetetrahydrofolate Reductase Gene Mutation Forty to fifty percent of the population have a methylenetetrahydrofolate reductase (MTHFR) polymorphism (CDC, 2014). The MTHFR gene encodes an enzyme that metabolizes folate, an essential substance needed for DNA methylation. Specific blood testing identifying MTHFR genetic polymorphisms is the most accurate for mutation detection. MTHFR has a wide range of involvement in our health including pregnancy and fertility, cardiovascular health, and mental health. Folate deficiency is linked with in-utero complications like congenital heart defects, neural tube defects, cleft lip, cleft palate, multiple psychiatric diseases, and cancer (Vidmar et al., 2020). Folic acid is maintained at toxic levels when it is unable to be metabolized by a functioning MTHFR enzyme. Toxic levels of folic acid have been attributed to increased risk for autism spectrum disorder due to its effect on neurocognitive development. Folic acid is a man-synthesized supplement. When a person takes in folic acid, the body must first convert it to the natural form, folate, before it can be used. In people with the MTHFR gene mutation, their body cannot convert folic acid into its natural form, so a diet consisting of foods rich in natural folate is of high importance. Examples of these foods are dark, leafy greens, beans, nuts, fruit juices, whole grains, and low mercury seafoods such as salmon and trout. Mutations to the MTHFR gene negatively impact amino acid breakdown, leading to increased homocysteine levels. Increased homocysteine levels as seen in blood testing detect impaired amino acid breakdown. The treatment for this would be supplements of folic acid and Vitamin B6, which cannot be broken down for proper use due to the MTHFR mutation. Specific blood testing identifying MTHFR genetic polymorphisms is the most accurate for mutation detection. The increase in homocysteine levels associated with MTHFR has a connection with a mild increase in cardiovascular disease (Moll & Varga, 2015). Increase of homocysteine doesn't cause any kind of cardiovascular disease; however, it is a marker for an increased risk of clotting and disease.
Methylenetetrahydrofolate Reductase Gene Mutation
Theoretical Proposal
Methylenetetrahydrofolate Reductase Gene Mutation Forty to fifty percent of the population have a methylenetetrahydrofolate reductase (MTHFR) polymorphism (CDC, 2014). The MTHFR gene encodes an enzyme that metabolizes folate, an essential substance needed for DNA methylation. Specific blood testing identifying MTHFR genetic polymorphisms is the most accurate for mutation detection. MTHFR has a wide range of involvement in our health including pregnancy and fertility, cardiovascular health, and mental health. Folate deficiency is linked with in-utero complications like congenital heart defects, neural tube defects, cleft lip, cleft palate, multiple psychiatric diseases, and cancer (Vidmar et al., 2020). Folic acid is maintained at toxic levels when it is unable to be metabolized by a functioning MTHFR enzyme. Toxic levels of folic acid have been attributed to increased risk for autism spectrum disorder due to its effect on neurocognitive development. Folic acid is a man-synthesized supplement. When a person takes in folic acid, the body must first convert it to the natural form, folate, before it can be used. In people with the MTHFR gene mutation, their body cannot convert folic acid into its natural form, so a diet consisting of foods rich in natural folate is of high importance. Examples of these foods are dark, leafy greens, beans, nuts, fruit juices, whole grains, and low mercury seafoods such as salmon and trout. Mutations to the MTHFR gene negatively impact amino acid breakdown, leading to increased homocysteine levels. Increased homocysteine levels as seen in blood testing detect impaired amino acid breakdown. The treatment for this would be supplements of folic acid and Vitamin B6, which cannot be broken down for proper use due to the MTHFR mutation. Specific blood testing identifying MTHFR genetic polymorphisms is the most accurate for mutation detection. The increase in homocysteine levels associated with MTHFR has a connection with a mild increase in cardiovascular disease (Moll & Varga, 2015). Increase of homocysteine doesn't cause any kind of cardiovascular disease; however, it is a marker for an increased risk of clotting and disease.
