Genetic Secrets of the Heart

We are just discovering the treasure trove of genetic testing. There is still a lot to learn but what we have learned so far is fascinating. There are a handful of genetic tests that we run to give us insight into cardiac care. So if you have a family history of heart disease or diabetes or you have these conditions yourself, please consider running these tests.

A variation or mutation of a gene is called a polymorphism. It can be inherited from one or both parents. Having one mutation can increase certain health issues, but having mutations from both sides increases the risk even more.


MTHFR (methylenetetrahydrofolate reductase)

This is a popular topic right now since we are learning so much about it. A mutation of this variety can alter the way we break down certain nutrients into active vitamins, minerals and other important compounds like neurotransmitters and hormones. It also affects the way we remove toxins from the body. Having this polymorphism can cause an increase in the amino acid homocysteine because it can’t convert properly into methionine. Elevated homocysteine levels are associated with heart disease and stroke. Other symptoms of this mutation are anxiety, depression, attention disorders, autoimmune disorders, and autism.

Avoiding folic acid (which is synthetic) and adding methylated folate in supplement form or high folate foods can decrease risk. Foods such as beans, lentils, dark green leafy vegetables, broccoli, and avocado have folate. For a well-rounded B complex, I recommend Basic B Complex from Thorne Research or MethylCare from Metagenics especially with two expressions of this mutation.


Apolipoprotein E

There are three versions of this gene, E2, E3, and E4. Apo E3 is the healthy variation. Apo E2 is rare but when present appears to reduce the risk of developing Alzheimer’s disease by helping to clear beta-amyloid plaque in the brain. ApoE4 may increase the risk of heart attack and stroke and in some cases age-related macular degeneration and Alzheimer’s disease. Heart attack and stroke are scary enough but Alzheimer’s disease will scare the dickens out of just about anyone. Remember that genes only express in a supportive environment. An environment that would support the expression of ApoE4 would be an unhealthy diet, excessive alcohol intake, smoking, obesity, high blood pressure, blood lipid imbalance, and diabetes. You can protect yourself by correcting the unhealthy factors we just mentioned, a Mediterranean diet, consistent physical activity, brain games, being social, and learning something new.


G20210A Prothrombin (Factor II) and Factor V Leiden

These tests can indicate a risk for increased clots. When you have an injury, clots are formed in the blood vessels to protect the body from further blood loss. Depending on the variation that can occur on these genes either too much or too little clotting factor is produced. If it is too much than a person can have a higher risk of forming clots and too little can cause bleeding episodes or increased bruising.

Things to know if you have a genetic expression that increases clotting:
  • Seek emergency help if you suspect a Deep Vein Thrombosis (DVT) or Lung Clot
  • Pain in arm or leg that might seem like a cramp or Charley horse
  • Plus swelling or redness or the area is warm to the touch
  • Shortness of breath, chest pain, racing heartbeat, feeling faint
  • Supplement with omega 3 oils, vitamin C, and proline


CYP2C19 Clopidogrel Response

You need the CYP2C19 gene to provide directions to make an enzyme to metabolize many prescribed drugs, one of which is clopidogrel, more commonly known as Plavix. This is a drug that prevents clotting especially for people who have previously had stents put in for cardiac disease. Depending on the variation that occurs on this gene, the anti-clotting drug clopidogrel could be less effective or completely ineffective. Other drugs affected by this polymorphism are proton pump inhibitors often used for reflux and stomach ulcers, antidepressants and sedatives used to promote sleep.


SLCO1B1 Statin-Induced Myopathy

If you can avoid going on a statin medication, please do. But if you cannot, then this test will help you determine if you are at risk of developing a common side effect of statins. The protein created from this genetic expression decreases the ability to transport medications such as statin drugs to the liver for detoxification. You end up with elevated levels of the drug causing myopathy. This Myopathy is muscle breakdown. Statins are famous for causing muscle issues. You might experience muscle pain, fatigue, tenderness, weakness, and cramping. Walking up the stairs might be difficult or painful. If you are on a statin and you have this genetic expression you can switch from a fat-soluble to a water-soluble statin and take a supplement of Coenzyme Q10. I recommend Co Q100 by Metagenics. 300 mg a day is recommended and you can find it on our website.

What is important to remember is that genetics only express in an environment that promotes their expression. If you find that you have the genetic code to have hangnails you can take the proper steps to prevent hangnails from happening like cutting your toenails straight across and not cutting them too short. The same goes for other genetic markers. Use it as a guide to stay healthy.

All these tests can be found on the Boston Heart Laboratory cardiac profile that we do in our clinic. Make an appointment today.

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