Scaling the heights

Sport is more than just practicing, overcoming difficulties and winning.  During a match, when a football player is injured, medics come running out onto the pitch immediately to give him the help that he needs.  But mountaineers, no matter how reliable their teammates are, realize that obtaining assistance in the mountains is an immensely complex and dangerous undertaking, so, before setting off to climb a mountain, they need to be as confident as they can be that they are prepared, not only physically but also genetically.

“Even if down below they managed to reach the sky”

You may have only moderate gifts, but it is still possible to learn how to run fairly well, and after a while you will be able to overcome a seemingly insurmountable distance without much effort.  At high altitudes, however, it does not work out that way, even for those who often take long treks in the mountains.  When they go higher than 3,500 metres above sea level, almost all mountaineers experience the symptoms of mountain sickness, which develop during the first hours of achieving what for them is a new height and, under normal conditions of adaptation, take their course in two to four days.  People who are unprepared and who live at sea level, for example in St Petersburg, can experience discomfort even at a height of 2,000 metres.  The higher they go, the more pronounced such symptoms of hypoxia as fatigue, hypothermia, dehydration and others will be and the more slowly they will adapt.  “A person cannot fail to perceive a reduction in the oxygen supply to the brain.  But it’s one thing when you are simply going along and you have a slight headache, are experiencing shortness of breath and are having trouble picking up the pace at that height.  But it’s another thing when you are prostrate because you cannot keep going and you have an excruciating headache, because of which you are unable to fall asleep,” relates the master of sport in mountaineering Valeria Merkurova, a graduate of St Petersburg University and a member of the Department of Clinical Genetics at Municipal Hospital No. 40.  For several years now, she has been working along with geneticists from the University to come up with a genetic test for mountaineers.

Not too high up in the mountains (at levels of 3,000-5,000 metres), where nonprofessional devotees of mountaineering or downhill skiing usually go, it is easier for a person to deal with the symptoms of mountain sickness and, should it be necessary, to give them assistance or make arrangements for an evacuation.  It is a different story when it comes to extreme heights of 6,000 metres above sea level and higher, where very serious problems can arise.

The conquest of daunting peaks is a very expensive undertaking.  The average commercial rate to ascend Everest, which includes the services of guides, the compulsory fee for the ascent, tickets, hotels and a reserve supply

of oxygen, comes to somewhere in the neighborhood of $65,000.  Nobody can guarantee, however, that you will be able to make the climb – much depends on the weather and on your health.  According to the data of Elizabeth Hawley, in recent times the main keeper of all the records of ascents to the highest point on Earth, in 2017, only 61 percent of those who left the base camp were able to reach the peak.  The genetic test that is being developed with the participation of researchers from St Petersburg University could raise that figure and screen out those who shouldn’t go to the trouble of trying to, as mountaineers say, “scale the heights” because any attempt to do so is fraught with tremendous risks not only to the person themselves, but, should they come to harm, also to those who might have to evacuate them

Genetics versus Experience

The researchers’ main interest is focused on high-altitude mountaineers, the ones who go beyond 6,000 metres.  By studying their genome sequences and bringing to light their genetic patterns, thanks to which they can cope with hypoxia more easily than others, geneticists will be able to identify markers capable of showing, while a person is still down below, how they will feel on the heights.  “At present, the only way we have of knowing whether or not a person can climb up to 7,000 metres is by trial and error,” Ms Merkurova said.  “All the physiological tests we’ve carried out have shown that these guys seem to be stronger and those guys, a bit weaker.  But, in reality, this has often turned out to be wrong.  For example, I climbed up Communism Peak (7,495 metres – ed.) without sufficient conditioning, while the other members of the group had already been up to 7,000 metres twice.  I realized that I was taking a big risk, and it was really more difficult for me than usual.  My oxygen saturation level before I continued the ascent from the altitude of 7,000 metres was 48 percent.  With such a reading, a person would be in intensive care.  Those who had already been on two 7,000-metre treks had levels that varied between 89 and 65 percent, and this was with a norm at ground level of 95-99 percent.  But not all of those with an oxygen saturation level higher than mine were among the first to reach the peak.  So, tests or the oxygen saturation level, which is considered to be a very important indicator, cannot always be relied upon.”

It is considered that the first Russian mountaineer was Peter the Great.  In 1697, the future Russian emperor climbed up the Brocken, which is in central Germany.  With an elevation of a mere 1141 metres, it is not a very tall mountain, even for Germany.  Incidentally, at that time people strongly believed that it was on the Brocken that witches gathered for the Sabbath on Saint Walpurgis Night.

It is important to remember that problems with a person’s oxygen supply can develop not only when they are going up a mountain, but also when they are coming down.  Take, for example, an emergency descent from an elevation of 6,000 metres.  On the one hand, when they are 1,000-2,000 metres lower, a person will already feel better.  On the other hand, such a descent may prove to be dangerous because, during hypoxia, toxins accumulate in the body.  Due to an increase in the concentration of oxygen during a descent, the level of intoxication will grow.  At an elevation of 3,000-4,000 metres, such changes are not felt so acutely.  These factors need to be taken into account above all during a rescue and a descent by helicopter.  

It All Comes Down to One Letter

The molecular genetic markers that show a person is in sound health and is prepared to withstand an ascent of more than 6,000 metres and likewise their gene expression pattern, which can be activated or disabled in conditions of hypoxia, are poorly understood.  It is believed that individual differences in the degree to which different physical or psychological traits are developed depends to a large extent on single nucleotide polymorphisms.  In other words, these differences are brought about when one and the same gene may vary from person to person by a single letter.  In the vast majority of cases, these polymorphisms have a neutral effect, but they are sometimes capable of influencing the degree to which genes are expressed and also the activity and structure of their functional products – proteins or RNA. 

At present, the researchers have at their disposal more than 200 blood samples taken from mountaineers of different categories – guides, who spend a whole season (2-3 months) on the heights and mountain-climbing athletes at various levels of training – along with people who cannot stand heights and do not go up into the mountains.  “The genes that we are studying have to do with sports genetics,” Ms Merkurova pointed out.  “They regulate cardiac performance, which is to say that they determine how quickly a person runs out of steam or, on the contrary, how long they can continue to work.  Others are responsible for the so-called fast and slow muscles. They establish which is more suitable for a person:  long training sessions or short-distance work.  We are also interested in metabolic activity, for example, who is better at assimilating carbohydrates, who will run into problems when they have a deficiency of carbohydrates, or, on the contrary, who is good at converting fatty acids, and deriving energy from them.”  As a result, of the nine genes under investigation, the researchers have been able to choose four distinct variations that occur in successful high-altitude mountaineers more often than the average in the population.  These are regions of DNA associated with endurance, reinforced fatty acid oxidation and tolerance of a heavy load.

On August 18, 1962, a group of University mountaineers, which included the rector at that time, Alexander Alexandrov, climbed up to the peak of a nameless mountain in the Shakhdara Range in Tadjikistan.  Some time later, following a request from the members of the expedition, the Presidium of the Supreme Soviet of the Tadjik Soviet Socialist Republic conferred upon it the name Leningrad University Peak.

Valeria Merkurova’s master’s thesis, which she defended in 2017 at St Petersburg University under the supervision of Oleg Glotov, Senior Researcher at the University’s Institute of Translational Biomedicine, Head of the Department of Clinical Genetics at Municipal Hospital No. 40, and Senior Research Associate at the Ott Institute of Obstetrics, Gynecology and Reproductive Medicine, was the first step in the development of a genetic test for mountaineers.  Working in this field has also helped the young researcher make some changes in her life as an athlete.  “Without any suggestions from anybody else, I took a serious look at what I was doing – my training, my workout load and, actually, the field that I was in.  I used to do more rock climbing, and I would challenge myself, doing long and difficult routes.  My results were modest.  But after being tested, I switched over to speed and power forms of climbing, like bouldering.  This is a form of rock climbing in which the climber goes through several difficult routes in a short period of time.  I added more bursting work to my running workouts.  My scores began to increase in those forms of climbing where you need burst power, I started winning medals in alpine bouldering competitions, and I raised my climbing grade from 6B+ to 7B+.  I have also managed to achieve the level of a master of sport in skyrunning – which involves a speedy ascent to an elevation of no lower than 2,000 metres – and make it onto the podium, sometimes with a gold medal, at the Russian Skyrunning Championships in 2016-2018,” Ms Merkurova shared her experiences.

To be sure, success in mountain climbing depends on many, many things, some of which have nothing to do with genetics.  As an example, by no means should you go up into the mountains if you are overtrained or overworked (even if only from sitting in an office) – there is a great risk that you will not be able to adapt.  It should be remembered that all chronic ailments are intensified in the mountains.  As for all other parameters, such as the weather or an athlete’s physical abilities, it is a lottery, in which the research that our geneticists have taken up will help mountaineers win more often, among other things with their lives.