When we talk about cardiovascular health, the first thing that usually comes to mind is blood fats, especially cholesterol, as it has been one of the most widely studied variables in relation to cardiovascular disease. However, cardiovascular health does not depend on this parameter alone. Eggs, for example, are rich in cholesterol, yet studies have shown that consuming one egg per day does not increase cardiovascular risk—an important reminder that cholesterol is not the whole story. This is why other factors and habits, such as working night shifts, have also been studied and shown to significantly increase cardiovascular risk.
These examples make it clear that there are other markers capable of influencing cardiovascular health. One of the most studied blood markers in this context is homocysteine. But what exactly is it?
Homocysteine is an amino acid that we can synthesise in the liver from another essential amino acid obtained through food: methionine. Excessively high levels of homocysteine are associated with a higher risk of blood clots, heart attacks and even strokes. Naturally, keeping homocysteine levels within a normal range is essential to avoid these complications. However, in some cases, maintaining healthy levels can be more challenging than it seems.
There is a metabolic pathway responsible for breaking down excess homocysteine, known as the one-carbon pathway. This pathway depends on adequate levels of three B-group vitamins: vitamin B6 (pyridoxine), vitamin B9 (folic acid) and vitamin B12 (cobalamin). These vitamins are also involved in energy metabolism, among other functions. When levels of B6, B9 and B12 are sufficient, this pathway works efficiently and excess homocysteine is properly metabolised.
However, certain genetic mutations can significantly reduce the efficiency of this process. The MTHFR gene encodes one of the key enzymes involved in this pathway and is essential for homocysteine clearance. The well-known C677T mutation in this gene reduces enzyme activity, leading to homocysteine accumulation and, consequently, an increased cardiovascular risk.
So, if you carry this mutation, is there anything you can do to reduce your cardiovascular risk?
The answer is yes. Numerous studies in nutritional genomics have shown that folic acid supplementation can help reduce this risk. These enzymes depend on B-group vitamins, and a slightly higher intake may improve their function. That said, folic acid supplementation is not always sufficient on its own.
Once the presence of this mutation has been confirmed, it is essential to assess blood levels of vitamins B6, B9 and B12. This mutation is often associated not only with folic acid deficiency but also with deficiencies in other B-group vitamins, which require targeted correction through supplementation.
Failing to correct these deficiencies can not only increase cardiovascular risk due to elevated homocysteine levels, but may also lead to additional complications such as pernicious anaemia or, in pregnant women, neural tube defects in the baby.
This is why understanding both our genetics and our current health status through blood tests can help identify areas where improvements in diet or lifestyle are needed, ultimately helping to prevent cardiovascular complications.
So, what can you do to maintain good cardiovascular health?
- Reduce harmful habits that negatively affect cardiovascular health (smoking, alcohol, drugs).
- Maintain an optimal diet, taking into account your individual needs and current nutritional status.
- Exercise regularly, ideally choosing activities you enjoy to improve long-term adherence.
