I love watching the Olympics and seeing people go ‘faster, higher, stronger’ than I could ever hope. I am not super athletic – I was the ‘kid with heart’ – but is that due to lack of training, support, or my natural ability? I can’t help wonder about some of the genetic gifts in some athletes.
Performance Enhancing Polymorphisms (PEPs) are natural genetic variations that can impact athleticism. So far, there are over 200 described (reviewed in Ostrander et. al, 2009). There are versions (alleles) that help with endurance or strength or flexibility. For example, the angiotensin-converting enzyme (ACE) has two interesting alleles: the I version is associated with more endurance and the D version is related with strength and power with training. Should we test for this?
Now these are polymorphisms and considered common in the population. Does the testing criteria change if it is a mutation? The difference for a mutation is that a normal version and the mutation is a rare and/or abnormal variant.
The cross-country skier Eero Mantyranta had a mutation in his EPOR gene so his body produced more red blood cells (reviewed in Enriquez and Gullans, 2012). More red blood cells lead to more oxygen carrying capacity and presumably more endurance (and why some athletes blood dope = add red blood cells). Is it fair that Eero had extra red blood cells?
*cough* certain swimmer”
Many have wondered about Michael Phelps and Marfan Syndrome. Some of the physical features seen in him: wing span longer than height, long hands/feet, hyper flexible joints, long narrow face. In his autobiography, he says that he was tested and that ‘everything was, and still is, okay’. No confirmation or denial. If he does have it, does that matter for his medals? Note: it might matter for him because of dangerous heart and aorta dilations.
What about sex differences?
In 2009, the case of Caster Semenya raised: what is female enough? This South African runner won both the 800 m and the 1500 m races with fast times. She was then accused of being too masculine and had to undergo sex testing. She was allowed to keep her medal and prize money. In 2010, she was cleared to compete as a woman. The testing was handled poorly but the final results of the sex tests weren’t released to give her a semblance of privacy. She won a silver medal in the 2012 Olympics in the 800 m race.
For the 2012 Olympics, the IOC released new guidelines for determining who can compete as a woman in the games. They clearly specify that these guidelines are not to determine sex. In fact, since 1999, the IOC has allowed people to compete as the gender on their legal documents.
To quote the IOC, the new regulations:
In general, the performances of male and female athletes may differ mainly due to the fact that men produce significantly more androgenic hormones than women and, therefore, are under stronger influence of such hormones. Androgenic hormones have performanceenhancing effects, particularly on strength, power and speed, which may provide a competitive advantage in sports. This is one of the reasons why the exogenous administration of such hormones and/or the promotion of the endogenous production of these hormones are banned under the World Anti-Doping Code, to which the IOC is a signatory.
This seems to make sense. But my problem: if we disallow people because their bodies mimic a banned substance, why don’t we ban someone like Eero with a mutation that mimics exogenous EPO?
I guess sex is different. Is it because people picture sex as male or female whereas oxygen capacity is generally on a continuum? This sex testing is complicated by the fact that we do have different sets of Olympics, dividing people by society’s norms:
- whether or not you have a physical disability. To discuss at another time
I don’t like inconsistency. I think that people should be allowed to compete with their biological reality. It is unfair to select one area for testing while ignoring other mutations that could give an advantage.
Is sex binary?
We often think of sex of having two options – male or female – but that isn’t true. Not only are biological markers of sex often on a continuum but sometimes they don’t agree. Some markers include external genitalia, secondary sex characteristics, hormones, gonads, and chromosomes. (I can’t help but picture men with boobs here.) More seriously, there are women with Complete Androgen Insensitivity Syndrome (CAIS) where all external signs suggest they are female, despite them having the chromosomes, gonads, and testosterone levels of men. They are presumed female at birth and generally identify as female. Their bodies are not receptive to testosterone, leading to their external female appearance.
Some people can have intermediate levels or responses to testosterone and can be classed as intersex. The IOC has introduced guidelines for women who have higher levels of testosterone and can respond to these increased levels.
There was an interesting comment paper in Nature that suggested the Genetically Enhanced Olympics are coming. They suggested that we have 3 basic scenarios:
- showcase of athletes born with genetic advances – current state
- level the playing field with the use of handicaps
- allow upgrades where people can use gene therapy for improvements
I’m OK with the current situation, where genetic advantages are allowed. I just want these advantages to be allowed for everyone. I’d be open to the idea of the third option if upgrades could be done safely – maybe the Super Human Olympics?
So, what do you think? Are mutations that impact sex different than other mutations?
- Ostrander, EA, Huson, HJ, and Osterance GK. Annu. Rev. Genomics Human. Genet. 10, 407-429 (2009).
- Karkazis, K, Jordan-Young, R, Davis, G, and Camporesi, S. American Journal of Bioethics. 12 (7), 3-16 (2012)
- Enriquez, J and Gullans, S. Nature. 487, 297 (2012).
- Do increased testosterone levels lead to increased athletic performance?
- Will the male/female split continue? I found some interesting information on women in major league baseball. Plus in some sports (e.g. climbing) there are women competing with men.