Cardiovascular disease is a complicated condition with numerous risk factors, some of which are related to diet and lifestyle, and some of which are genetic. One such genetic risk factor is found in individuals who carry a variant of the MTHFR gene, which is the key gene involved in energy metabolism. Two common variants are associated with lower levels of riboflavin (vitamin B2) and folate (vitamin B9), as well as increased levels of homocysteine in the blood, a risk factor for heart disease and stroke.

What is homocysteine?

Homocysteine is an amino acid, which are the building blocks of protein. Homocysteine levels increase in the body when the metabolism of certain proteins is impaired. This can occur when levels of B vitamins are low. Elevated levels of homocysteine are associated with atherosclerosis, blood clots, and possibly dementia. High homocysteine levels, known as hyperhomocysteinemia, exist in about 5 percent of the population; however, researchers are unsure whether hyperhomocysteinemia is a cause of heart disease or simply a marker that indicates someone is at risk of heart disease.

Homocysteine and riboflavin

People with low levels of vitamin B2, or riboflavin, have been found to have the highest levels of homocysteine. All B vitamins help the body convert food into fuel. B vitamins are water soluble, which means the body cannot store them and they must be replenished daily. Riboflavin also acts as an antioxidant, helping to protect the body against damaging free radicals. Symptoms of riboflavin deficiency include fatigue, impaired growth, digestive problems, and vision problems, including eye fatigue and sensitivity to light.

In people with the MTHFR variant, supplementation with riboflavin was found to help reduce levels of homocysteine. Individuals with the MTHFR variant should increase their take of vitamin B2 and possibly take a B complex supplement or a multivitamin containing B vitamins. Riboflavin is naturally found in a variety of foods including milk, cheese, leafy greens, beans, and lean meats.

Homocysteine and folate

Folate, also known as vitamin B9, can also help reduce levels of homocysteine. Folate is required to make the building blocks of DNA and also plays a role in DNA repair. Folate is necessary for proper brain function and is involved in mental and emotional health. It’s also required for the conversion of homocysteine into an essential amino acid known as methionine; this process is necessary for helping cells decide which genes to turn on or off. Disturbances in this process can lead to genetic mutations, which can cause various cancers.

Folate deficiency is fairly common and can cause gingivitis, loss of appetite, shortness of breath, diarrhea, irritability, anemia, forgetfulness, and mental sluggishness.

Consuming adequate amounts of folate, particularly for individuals with a MTHFR variant, can help protect against heart disease. Folate is naturally found in many foods, including leafy greens such as kale and chard, as well as beans, lentils, fruits, and fortified grains. If taking a supplement, look for folic acid, which is the synthetic version of folate.

MTHFR gene variations

The MTHFR gene is a key enzyme involved in folate metabolism. Two common variants of the gene lead to reduced enzymatic activity and an increased risk of heart disease and cancer. Both of these variants also increase the risk of diseases related to folate deficiency. About 85 percent of the population carries at least one of these variants. Fourteen to 23 percent of people carry both variants (one from each parent), which can reduce enzyme activity by up to 48 percent, but this effect can be counteracted with increased intake of folate. People who have at least one of these variants should closely monitor their folate intake and also make sure they get enough vitamin B2.

Your individual genetic report from Vivaliti DNA can reveal if you have a MTHFR variant or other risk factors for heart disease. Learn more about Vivaliti DNA and find out how your genetic blueprint can help you stay healthy as you age!