Top Secrets About Marathon Race That Has Never Been Revealed For The Past 50 Years.

As a Dutchman you seem to have little chance of winning the marathon. It is often the Kenyans or Ethiopians who take off with the prizes. Is this a coincidence? No, it’s predisposition, it’s in the genes. The Finn Eero Mäntyranta won all cross country skiing competitions in his time (the 60s, early 70s of the last century). He was found to have a rare genetic abnormality: congenital polycythemia due to a mutation in the erythropoietin receptor. This made him more sensitive to erythropoietin, a hormone that stimulates the production of red blood cells and is now notorious as the doping agent Epo. As a result, he had more red blood cells in his blood than average, so that his capacity to transport oxygen was greater.

We also know the example of a German boy – who is now five years old – with remarkably large muscles; about twice as big as normal. When he was four and a half years old, the child could hold two weights of three kilograms each in the air with outstretched arms. Try that yourself. It turns out that this little boy has a change in the gene for myostatin, which causes his muscles to have an abnormally large size. The same abnormality also occurs in cows: the Belgian double-billed cow. These examples show that some genetic changes can have a major effect on a person’s sports performance.

200 Genes Different In Top Athletes

But most of the time these are subtle and less visible genetic variations, which also have a more subtle effect on performance. More than 200 genes are already known that are slightly different in elite athletes than in ordinary people. Some of those variants improve endurance, others seem to give a better performance on, for example, the sprint. For example, there is the protein alpha-actinin 3, which is only found in specific muscle fibers that are needed for short and powerful action, such as sprinting (the type IIA and IIX fibers). The protein anchors certain contractile elements in a muscle fiber together. A mutation in the alpha-actinin 3 (ACTN3) gene with only one amino acid removed produces an inactive protein. About a third of people have this mutation, but it is never found in Olympic sprinters. Long-distance runners do have the mutation. Another protein – Angiotensin Converting Enzyme (ACE) – is important for maintaining good blood pressure. There are two variants of the gene for this enzyme: a short and a long version. It turns out that there are virtually no long versions of the ACE gene among sprinters, while 25 percent of long-distance runners and ordinary people do.

Based on gene profiling of the mutations in the genes for ACTN3 or ACE, it therefore seems possible to predict whether someone will be a good sprinter. Commercial companies such as Atlas First Sport Gene Test, Gonidio and DNAFIT have already picked up on this and offer tests for these (and other) genes. At Atlas Sports Genetics, for example, a genetic test for ACTN3 costs less than 200 dollars. The test is being touted by parents as a way to make an informed decision about which sport is best for their child. The website rumored that the test “provides parents and coaches with early information about the genetic predisposition for success in team sports or individual speed, strength and endurance sports”. While it is likely that such tests will become more accurate in predicting athletic ability in the future, these types of companies misrepresent the science behind the tests and the importance of ACTN3 in one’s athletic ability. The question is, however, whether steering a child toward a sport in which he is likely to be good is different from hiring a piano teacher for a musical child or a tutor who will help a child gifted in math advance more quickly.

Fewer Sports Injuries

Not only sports performance can depend on our genetic background, predisposition also plays a role in the susceptibility to sports injuries. COL5A1 (alpha-1 type V collagen) is important in building collagen fibers. These fibers influence the firmness of our skin, as we know from advertisements. They are also important for the strength of tendons that connect muscles to the skeleton. The gene for COL5A1 has genetic variations. For example, a certain mutation in the gene leads to the Ehlers-Danlos syndrome: unstable joints and skin disorders. In healthy people we know of two variants in the COL5A1 gene that can be predictive of a person’s predisposition to tendon injuries.

There are dramatic examples of athletes dying unexpectedly from cardiac arrest, sometimes even on the field. There are long lists of these on the internet. For example, it happened to the Dutch marathon skater Sjoerd Huisman on the last day of 2013. One of the first reported cases of such a death is said to be the Greek courier Pheidippides, in 490 BC. The long-distance run is named the marathon after him because, according to one version of the story, he ran about 40 kilometers to Athens to report that the Athenians had defeated the Persians at the Battle of Marathon. After pronouncing the word nenikèkamen – we won – he would have collapsed and died on the spot.

thickened heart muscle

Whether this was indeed a sudden cardiac death remains obscure, but unfortunately there are plenty of more recent examples where this is the case. The cardiac arrest appears spontaneous, but usually heart disease is involved. One is hypertrophic cardiomyopathy, in which the muscle wall of the left ventricle is thickened. There is a hereditary form that is often caused by a mutation in the gene for the myosin binding protein type C (MYBPC3). This protein is located in the striated muscle tissue and plays a role in the stability of the smallest contractile units of the muscle fiber. MYBPC3 is specific for the heart muscle and mutations in this gene are responsible for 25 percent of hypertrophic cardiomyopathy. The predisposition to this disease occurs in at least one in 500 people.

These examples show that it can be useful to screen (top) athletes for genes that indicate a predisposition to injuries. The athlete can anticipate this by, for example, in the case of a COL5A mutation, choosing a sport that puts less strain on the tendons, for example of the Achilles heel, or by playing with a taped ankle.

Mandatory Testing

A discussion is gradually being started about the desirability and necessity of genetically screening athletes. Some cardiologists are in favor of a mandatory comprehensive preventive genetic cardiological screening of professional elite athletes and avid amateur athletes. They believe that athletes are now unnecessarily in danger of suddenly dying. Genetic testing in top sport is also seriously considered by some drivers. In the United States, for example, the chief medical officer of the state of New York has devised to oblige boxers to be genetically tested for the E4 variant of the ApoE gene. People with this genetic variation have a greater chance of brain damage and dementia, probably because the damage after a concussion does not heal as well. The New York health authority eventually dropped it because of the boxers’ privacy. They were afraid that the data would end up on the street.

Having athletes (mandatory) genetically tested has both advantages and disadvantages. Health damage and premature death could be prevented with this. Examples include the aforementioned hypertrophic cardiomyopathy, tendon injuries, brain damage and choosing the right sport for your child. Another advantage of screening is of course that sports clubs know where they stand when they contract athletes for millions of euros. The disadvantages of genetic testing is that these tests generally have a low predictive value. It is far from certain that someone with an increased risk will actually develop the disease (to a serious extent) or that someone with a ‘favorable’ muscle gene will really become a top athlete. People can rely too much on the results of these kinds of tests and no longer choose sports that they like, but which the test says they are good at. Also, the reason why no genetic testing for boxers has been introduced in New York is a very important and principled argument against this type of testing: the athlete’s privacy (before you know it your test data will be in Runners World of Voetbal International) and the right not wanting to know, for example, what your genetic predisposition is for future diseases such as Alzheimer’s.

Genetic Doping

Our genes (our ‘disposition’) therefore partly determine our sports performance. If we could change those genes, we could therefore also improve our possible sports performance. Genes can be changed with gene therapy – the insertion of genes to treat genetic diseases. Gene therapy is still little used and it is limited to serious congenital defects. The successes are variable. Turning on desired (introduced) genes and turning off unwanted genes in the body appears to be more complicated than previously thought. However, progress is slowly but surely being made.

That gene therapy could also be used to improve sports performance. Then it’s called genetic doping. The gene for erythropoietin could be injected into a muscle, for example. The muscle cells can then start making erythropoietin, which leads to a greater production of red blood cells and thus to more oxygen transport through the blood. Other examples are the introduction of genes to improve blood flow, such as the vascular endothelial growth factor. This is a hormone that causes extra blood vessels to grow and is also activated during the growth of some tumors. Muscles could be strengthened with extra genes for the insulin-like growth factor (IGF-1) and endurance increased with the gene for the enzyme PEPCK-C. Gene therapy with this enzyme, which is involved in energy management, led to the so-called metabolic super mouse in 2007. The American researcher who had made it compared the animal to ‘Lance Armstrong cycling up the Pyrenees’. The mice could run for five hours without eating or drinking, were ten times more active than usual, weighed half as much and lived a year longer. The pain threshold and thus the performance of an athlete can also be stretched by injecting genes that code for endorphins, the natural painkiller, into the brain.

Not A Reliable Test

Any sane person will forget to use gene doping. It is not for nothing that the body sets limits on building muscles, creating blood vessels or producing endorphins. Who says that a growth factor like IGF-1 is limited to only the muscle cells in which they are injected? If they strengthen cells elsewhere in the body, what are the consequences: bloated organs, a body out of balance, cancer? So far, no one has actually been caught with gene doping. But every time the Olympic Games are approaching, there is a lot of speculation about it again. However, many believe that the question is not whether gene doping will happen, but when. At the 2016, 2020 Games? Scientific progress has always helped elite sport, whether we like it or not. The financial interests and promise of fame and honor are too great for that.

It is expected that when there is no stopping it, the doping authority will eventually also have to give in. This one thinks otherwise. The world anti-doping organization WADA has foreseen the rise of gene doping and put genetic doping on the list of prohibited substances and methods. The problem, however, is that there is as yet no reliable test for genetic doping. After all, these are human genes, which cannot be distinguished from the user’s genes. However, it is expected that tests will soon be available that can distinguish between the body’s own and foreign genes. But athletes will probably find a trick there too, as it has been the case for centuries. For they will win, whether it be with their own genes or with someone else’s.