Welcome to The Weekly Gene, a blog series brought to you by Helix that introduces a different human gene each week. We’ll share important facts, relevant research, and how these genes might be related to certain conditions and traits. It’s a great way to build your DNA vocabulary, learn more about the code that makes all of us unique, and find a path to the genetic insights that are important to you.
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Here at Helix, you’ll often hear us talk about the fact that DNA is not destiny. Although your genes have a profound influence on who you are, they’re still pieces in a very large and complex puzzle.
A great example of this is a gene known as ACE1 (you’ll also see it written as “the ACE gene”). It was the first gene linked with human athletic performance nearly 20 years ago, and has since been the topic of intense research.
The ACE gene is a DNA sequence that holds instructions for producing the Angiotensin I-converting enzyme, which is best known for its role in regulating blood pressure. Your heart is continually pushing nutrients and hormones through the body using blood vessels—elastic structures that are not unlike a series of connected garden hoses. Several factors help determine blood pressure including the width of blood vessels and the amount of blood being forced through them. Your body can modulate the width of blood vessels to increase or decrease blood flow when necessary. For example, during the “fight-or-flight” response, your body releases numerous hormones into the bloodstream to help you get out of a dangerous situation. By constricting the blood vessels to a smaller width, the body can increase blood pressure and rush oxygen, hormones, and nutrients throughout the body at a faster pace. The ACE enzyme contributes to this system by helping to increase blood pressure when needed.
But how could this enzyme potentially affect athletic function? Years of research have shown that a DNA variation in which 287 DNA bases are inserted into the ACE gene sequence causes a decrease in the enzyme’s activity. This insertion is referred to as the “I” version of the ACE gene, and has been shown to be present in elite long distance athletes with greater prevalence than in sprinters. In fact, the absence or presence of this insertion has been correlated to endurance in several groups of athletes including elite wrestlers, swimmers, and triathletes. One preliminary study1 even assessed Gorkha soldiers living at high elevations in the Himalayas and found there to be a higher prevalence of ACE I gene in that population versus those living at lower elevations. While the exact mechanism behind how the ACE gene contributes to athleticism is still unknown, there are theories that it relates to the ACE enzyme’s role in regulating processes like blood pressure, heart growth, and muscle growth during training.
Although the science community has made great strides in understanding ACE and its role in the human body, elite athletes have achieved success both with and without these variations. (If you’re looking for great proof that DNA isn’t destiny, just ask a marathon winner who doesn’t have the ACE insertion!2) However, genetic insights could help you tailor your workouts for your body’s unique physiology, putting you on the path to a better, stronger, and healthier life.
- Malhotra S, Preet K, Tomar A, et al. Polygenic study of endurance-associated genetic markers ACE I/D, ACTN3 Arg(R)577Ter(X), CKMM A/G NcoI and eNOS Glu(G)298Asp(T) in male Gorkha soldiers. Sports Medicine – Open. 2017;3:17. doi:10.1186/s40798-017-0085-0.
- Amir, Offer, et al. “The ACE deletion allele is associated with Israeli elite endurance athletes.” Experimental Physiology, vol. 92, no. 5, 2007, pp. 881–886., doi:10.1113/expphysiol.2007.038711.