The One Where Your Heart is Immune to Disease

Here are the facts. Cardiovascular disease kills an Australian every 12 minutes. Nearly 30% of all deaths in 2015 (45,392) were due to cardiovascular disease.

So if there were ways of targeting new treatments, we’d jump at perusing them.

Recently, various researchers have been harnessing the power of our genetics to achieve this. You see, there are a small number of people who are, as the headlines say, ‘immune’ to heart disease.


These naturally occurring genetic mutations, even when other risk factors are present (smoking, high blood pressure, diabetes), lead to extremely low triglyceride levels in these people.

Briefly, triglycerides are fats in your blood, and they provide energy to your body. But if you have too many triglycerides, these fats can be stored in various places in your body and it is these excess triglycerides which some researchers have linked to a higher risk of heart and cardiovascular disease.

Researchers earlier this year demonstrated that approximately 1 in 309 people carried a genetic mutation in both pairs of a particular gene, ANGPTL3.

A very quick genetics lesson: we carry a pair (two) of every gene that makes up our DNA, one inherited from each parent. Sometimes one, or both pf certain genes can be altered, or missing.

So, back to the above study; both pairs of the ANGPTL3 gene in these people was found to be totally inactive, both pairs of this gene (one inherited from each parent) did not work. Properly functioning ANGPTL3 is involved in inhibiting the breakdown of triglycerides, with high levels of ANGPTL3 associated with increased triglyceride and other fats. So in theory, lack of functioning of this gene would mean these people break down triglycerides in a very efficient manner, protecting them from any signs of heart or cardiovascular disease.

Interestingly, this was not the only gene found to be involved in protecting people from heart disease.  Once again, an incidental finding from the Amish community found that the gene apo-III, which tells our body to produce the protein called ApoC3, was found to be mutated, and these people appeared to be protected from the development of heart disease.

Similar to ANGPTL3, ApoC3 usually slows the rate that the body breaks down triglycerides. So theoretically, if we do not have both ApoC3 gene copies working, then our triglycerides would continue to break down – helping to prevent the development of heart and cardiovascular disease.

Not surprisingly, pharmaceutical companies have grabbed hold of these findings to develop drugs which mimic the genetic mutations of ANGPTL3 and apoC-III. Promising initial results have demonstrated these drugs have the ability to lower triglycerides in people with high triglyceride levels.

This story highlights an unusual path to drug discovery; a natural gene mutation found incidentally in a small subset of people, translated to preclinical models to develop drugs, which can then be tested in people with cardiovascular disease – quite remarkable!

The human body still has much to teach us.



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