{"id":40,"date":"2009-04-13T13:31:08","date_gmt":"2009-04-13T21:31:08","guid":{"rendered":"https:\/\/blogs.ubc.ca\/geneticsinsport\/?p=40"},"modified":"2009-04-16T13:14:12","modified_gmt":"2009-04-16T21:14:12","slug":"literature-review","status":"publish","type":"post","link":"https:\/\/blogs.ubc.ca\/geneticsinsport\/2009\/04\/13\/literature-review\/","title":{"rendered":"Literature review"},"content":{"rendered":"<h2><strong>The Makings of an Olympian<\/strong><\/h2>\n<p><strong>Introduction<\/strong><\/p>\n<p>The dimensions of becoming an Olympic champion are very complex.\u00a0 It involves countless hours of training and exercising, both in and out of the gym, but also requires being motivated, patient, and passionate.\u00a0 While all those traits may contribute to the package, what may truly define the greatness of an elite athlete is their genes.\u00a0 The genetic makeup in an athlete may in part contribute to their athletic success.\u00a0 This notion was all too apparent at the 2008 Beijing Summer Olympics.\u00a0 American swimmer, Michael Phelps, dominated airwaves throughout the entire games because of his record breaking eight gold medals.<\/p>\n<p>During the games, media outlets analyzed every possible aspect that could have contributed to the 23-year olds success.\u00a0 In doing so, it became clear that Phelps\u2019 advantage over his competitors might have more to do with his genetic makeup than his training regiment.\u00a0 For instance, Phelps was born with hyperflexible joints, allowing his knees, ankles, and wrists to bend about 10 to 15 degrees more than the average person (Parry, 2008, BBC Sports). As a result, he is able to conduct a more powerful flipper kick with both his legs and angles, resembling that of the motion of a dolphin\u2019s tail (Parry, 2008, BBC Sports).<\/p>\n<p>Further, Phelps has an abnormally long torso with short legs.\u00a0 This in turn allows him to swim faster, as it minimizes his drag and maximizes propulsion (Parry, 2008, BBC Sports). If one were to breakdown every aspect of Phelps\u2019 body, it can be concluded that the composition of Phelps\u2019 body is genetically sound for swimming success.<\/p>\n<p>Another such example can be identified in the 1964 Winter Olympics.\u00a0 Eero Mantyranta, brought home two gold medals in cross-country skiing for Finland during the games held in Austria.\u00a0 Although, Mantyranta\u2019s training practices were similar to his fellow competitors, his athletic success came in part as the result of his genes.<\/p>\n<p>Mantyranta was born with a mutation in the erythropoietin (EPO) receptor gene (McCrory, 2003, p.192). This genetic mutation gave him the advantage over the average person, as it \u201cincreased the oxygen carrying capacity of his red blood cells by 25% to 50% to the heart,\u201d which in turn allowed him to maintain his endurance during competition (McCrory, 2003, p.192).<\/p>\n<p>With genetics having been identified as contributing to human athletic performance, it\u2019s hard to understand how those athletes without the same genetic predispositions can compete.\u00a0 In recent years, scientists have been conducting research into this area, trying to find answers to these questions. Subsequently, this research has lead to the development of gene-based technologies, allowing scientists to examine and manipulate an individual\u2019s genes (Haisma, 2004).<\/p>\n<p>As a result of these advances, new worries have arisen, as to how these technologies will impact sport.\u00a0 One such worry includes the possibility that athletes will look to enhance their own genes in order to get that athletic advantage. In order to do so, competitors can turn to a medical treatment called gene therapy.\u00a0 According to Dr. H.J. Haisma (2004):<\/p>\n<blockquote><p>Gene therapy may be defined as the transfer of genetic material to human cells for the treatment, or prevention of disease or disorders. Genetic materials can be DNA, RNA, or genetically altered cells (p.17).<\/p><\/blockquote>\n<p>Through the use of gene therapy, athletes are able to use these techniques to enhance their own athletic performance (Haisma, 2004). This in the realm of sports constitutes as gene doping.\u00a0 Since, the effectiveness of genetic therapies have advanced over the past few years, sports doping agencies such as the World Anti-Doping Agency (WADA) have been scrambling to come up with a test that would catch genetic cheaters.\u00a0 At this point, there are no concrete tests available to catch gene dopers, and as these genetic-based technologies continue to advance, it may become nearly impossible to distinguish between those who are genetically \u2018gifted\u2019 and those who paid for them.<\/p>\n<p>Given the importance of genetics in sport, the discussion in this paper will examine the key findings in genetic analysis of human athletic performance. In addition, as gene-based technologies continue to evolve, new threats have emerged as to how these advances will impact sport.\u00a0 In this review, genetic medical treatments, gene-doping, and anti-doping tactics will also be addressed.<\/p>\n<p><strong>Literature Review<\/strong><\/p>\n<p>David J. Smith provides an in-depth review of the many different components contributing to athletic performance.\u00a0 Smith acknowledges the relationship between genetics and athletics, but maintains that proper training methods, nutrition and rest all play a role in performance (Smith, 2003).\u00a0 Most notable, Smith provides a compelling argument for the importance of training within sports, whereby he links the number of years put into a sport to athletic success (Smith, 2003).<\/p>\n<p>According to Smith (2003), \u201ca substantial body of evidence suggests that elite performances require around 10 years of practice to acquire the necessary skills and experience to perform at an international level\u201d (p.1107).\u00a0 Although, Smith identifies the role of genetics in athleticism, noting \u201cgenes account for half of performance\u201d, he places emphasis on recovery periods, marking it as a key component to athletic performance (Smith, 2003).<\/p>\n<p>Furthermore, Smith identifies mental or psychological toughness as key components to athletic performance, and thus, should be incorporated into the training regime of the competitor (Smith, 2003).\u00a0 Taking note of all the psychological traits that influence performance, Smith (2003) identifies the following:<\/p>\n<blockquote><p>The psychological factors include motivation, aggression, focus, the aptitude to tolerate pain and sustain effort, attitudes towards winning and losing, the ability to cope with anxiety and stress, coach-ability, the competence to manage distractions and the capacity to relax (p.1108).<\/p><\/blockquote>\n<p>Therefore, Smith maintains that the manner in which an athlete can cope with the above-mentioned psychological traits may in fact determine their athletic success (Smith, 2003).<\/p>\n<p>In a review of gene-based technologies, Brad McGregor furthers the analysis of genetics within in sport performance.\u00a0 Within his article, he examines genetic characteristics and their greater impact on training and exercise.\u00a0 Through his examinations, McGregor identifies several genetic components that influence the body\u2019s reaction to training and exercise.\u00a0 Some of these components include oxygen intake, heart rate, and an individual\u2019s cardiac structure (McGregor, 2003).\u00a0 Studies presented as evidence to support McGregor\u2019s argument showed that \u201c30-70 percent of an individual\u2019s cardiac structures and response to cardiopulmonary exercise is genetically pre-determined\u201d (McGregor, 2003, p.9; Patel and Greydanus, 2002).<\/p>\n<p>Moreover, McGregor goes on to characterize structural traits that are not only influenced by genetics but are integral to performance. He notes that athletic institutions are using gene-based technologies to screen youth for genetic predispositions (McGregor, 2003). They are also using the tests to look for characteristics in the body structure that suit particular sports (McGregor, 2003). These characteristics include:<\/p>\n<ul>\n<li>Height, length of arms<\/li>\n<li>Muscle size, strength and muscle fiber composition<\/li>\n<li>Heart size and resting heart rate<\/li>\n<li>Lung size and volume<\/li>\n<li>Flexibility of joints (McGregor, 2003, p.5; Patel and Greydanus, 2002)<\/li>\n<\/ul>\n<p>With the above-mentioned characteristics in mind, McGregor provides strong evidence to what percentage of genetics influence an individual structural trait.\u00a0 McGregor quotes Patel and Greydanus\u2019 2002 study to back up his argument, highlighting that \u201cgenes are responsible for 30% of baseline heart rate and 27% of heart rate variance in response to training\u201d (McGregor, 2003, p.5; Patel and Greydanus, 2002, p.251).<\/p>\n<p>There are over 200 different genes that could influence \u201cathletic performance and health-related fitness phenotypes\u201d (Brey et al, 2009, p.34).\u00a0 One such gene is alpha-actinin 3 (ACTN3).\u00a0 Nan Yang et al. (2003) argue:<\/p>\n<blockquote><p>[T]here are highly significant associations between ACTN3 genotype and athletic performance.\u00a0 The presence of ACTN3 has a beneficial effect onthe function of skeletal muscle in generating forceful contractions at high velocity, and provide an evolutionary advantage because of increased sprint performance (p.627).<\/p><\/blockquote>\n<p>These researches provide interesting accounts of the ACTN3 gene, as their findings suggest that in both male and female sprinters exhibited \u201chigher frequencies of the 577R allele\u201d (Yang et al., 2003, p.627).\u00a0 Study found that R577X, which is expressed in muscle, tapped in at much higher numbers than expect in female sprint athletes, and lower in endurance athletes (Yang et al., 2003). Subsequently, researchers did find dissimilar results between the sexes, which they concluded that the ACTN3 gene affects men differently than women (Yang et al., 2003).<\/p>\n<p>In 2004 report by the Netherlands Centre for Doping Affairs, Professor Dr. H. J. Haisma explores the evolution of doping in sport.\u00a0 In his examination, Haisma identifies gene doping as the next possible threat to sport, suggesting that the advances in gene-based technologies and genetic therapy will likely persuade unscrupulous athletes\u00a0 (Haisma, 2004). Since \u201cgene therapy may be defined as the transfer of genetic material to human cells for the treatment, or prevention of a disease or disorder,\u201d such transfer of genetic material may become desirable for athletes in the future, as the ability to transfer\u00a0 (Haisma, 2004).<\/p>\n<p>The report identifies erythropoietin (EPO) gene as the potential first gene doped in sport (Haisma, 2004).\u00a0 Haisma argues that EPO gene receptor \u201cspeeds up wound healing, and ameliorates muscular soreness after exercise,\u201d which in turn may be a desirable feature for athletes experiencing soreness after exercise or suffering from an injury (Haisma, 2004, p.13).\u00a0 EPO is a commonly used treatment for people who are suffering from anemia or provided to cancer patients to offset the harsh side effects experienced during chemotherapy (Haism, 2004).<\/p>\n<p>Tom D. Brutsaert and Esteban J. Parra examine the complexities of human athletic performance through an analysis of the interaction between genes (G) and environment (E) (Brutsaert and Parra, 2006).\u00a0 Within their review, these researchers provide evidence to support a correlation between genetics and human athletic perform, but their findings suggest that environment influences affect the outcome of those athletic abilities (Brutsaert and Parra, 2006).<\/p>\n<p>Brutsaert and Parra (2006) maintain that \u201cgene-environment interaction (G x E) as a means of understanding variation in human physiological performance\u201d must be further studied in order to understand the many dimensions of becoming an elite athlete (p.109).\u00a0 Such notion is further emphasized in their categorization of environmental and human physical performance research.\u00a0 Within this subsection, Brutsaert and Parra (2006) argue:<\/p>\n<blockquote><p>[E]lite athletes are those who respond in extraordinary ways to training in order to unlock an already present potential, and G-by-training interaction may itself be affected by G x E taking place over the lifetime<br \/>\nof an individual.\u00a0 Thus, a broader consideration of environmental effects should be emphasized (p.115).<\/p><\/blockquote>\n<p>Although, further study is needed in the area of environmental impacts on human athletic performance, Brutsaert and Parra identify \u201cunmeasured environmental effects\u201d as a major problem in advancing this research (Brutsaert and Parra, 2006, p.117).\u00a0 Since there may be a correlation between genetics and environment within athletics, Brutsaert and Parra (2006) maintain, \u201cunderstanding the origins of variation in human athletic performance will require an integration of both, genetic and environmental, researchers and research approaches\u201d (p.117).<\/p>\n<p>George Gayagay et al. study \u201cthe genetic markers that may contribute to making an elite athlete\u201d (Gayagay et al., 1998, p.48).\u00a0 In this study, Gayagay et al. examine the angiotensin-converting enzyme (ACE) in 64 Australian national rowers and compared the sample against a normal population (Gayagay et al., 1998).\u00a0 The results revealed that the rowers had an excess of \u201cACE I allele and the ACE II genotype\u201d (Gayagay et al., 1998, p.48).\u00a0 According to Gayagay et al. (1998):<\/p>\n<blockquote><p>[T]he study demonstrated a significant association between a measurable genetic polymorphism and elite athletic performance. An excess of the ACE I allele \u2013 might represent, in part, a \u201chealthy\u201d cardiovascular system (p.50).<\/p><\/blockquote>\n<p>Therefore, this study provides evidence to suggest an association between the presence of the ACE gene and improved athletic performance in endurance sports, as ACE is linked with a strong cardiovascular system (Gayagay et al., 1998).<\/p>\n<p>Dr. Oliver Rabin, the World Anti-Doping Agency (WADA) Science Director, identifies the challenges of catching gene dopers.\u00a0 He states (2006), \u201cgene or cell doping, referring to the abuse of gene or cell therapy to enhance performance in sport, is considered to be one of the most difficult challenges facing the anti-doping scientific community\u201d (p.1).\u00a0 Dr. Rabin attests that WADA has placed gene doping at the top of their research priority list, and in doing so, has accepted and funded 11 projects dedicated catching cheats (Rabin, 2006).\u00a0 Dr. Rabin (2006) goes on to note that this type of doping may pose a challenge to creating a reliable test, as \u201cit is still unknown which maker will offer a sufficient specificity, sensitivity ad window of detection to transfer into valid and practical anti-doping methods\u201d (p.1).<\/p>\n<p><strong>Conclusion<\/strong><\/p>\n<p>In light of the recent genetic discoveries within human athletic performance, the literature reviewed provided sound arguments for the influential role genetics plays in sports.\u00a0 As technology is evolving, more than ever is it important to understand how geneticists determine what athletic components individuals are predisposed to in sports. Since human athletic performance is linked to particular genotypes within human DNA, scientists can pinpoint whether an individual will excel in either endurance performance or muscle-strength sports (Rankinen, 2006). This in turn may change the nature of sports competition in the future, as athletes may decide to venture into a particular sport based upon their genetic predisposition, as opposed to their love for the game.<\/p>\n<p><strong>Bibliography<\/strong><\/p>\n<p>Bray, M.S., Hagberg, J.M., Perusse, L., Rankinen, T., Roth, S.M., Wolfarth, B., &amp;\u00a0 Bouchard, C. (2009, January). The human gene map for performance and health-related fitness phenotypes: The 2006-2007 update. Medicine &amp; Science in Sports &amp; Exercise, 41(1), 34-73.<\/p>\n<p>Brutsaert, T.D. and Parra, E.J. (2006).\u00a0 What Makes a Champion?\u00a0 Explaining Variation in Human Athletic Performance.\u00a0 Respiratory Physiology &amp; Neurobiology, 151. 109-123.<\/p>\n<p>Gayagay, G., B. Yu, B. Hambly, T. Boston, A. Hahn, D.S. Celermajer, and R.J. Trent. (1998).\u00a0 Elite Endurance Athletes and the ACE I Allele-the Role of Genes in Athletic Performance.\u00a0 Hum Genet, 103. 48-50.<\/p>\n<p>Haisma, Dr. H.J. (2004). Gene Doping. Netherlands Centre for Doping Affairs. 1-35.<\/p>\n<p>McCrory, P. (2003). Super Athletes or Gene Cheats? British Journal of Sports Medicine, 37. 192-193.<\/p>\n<p>McGregor, B.\u00a0 (2003).\u00a0 <a href=\"http:\/\/209.85.173.132\/search?q=cache:tu521d2GLGAJ:www.sportecoach.com.au\/downloads\/THE%2520USE%2520OF%2520GENE-BASED%2520TECHNOLOGIES%2520FOR%2520TALENT%2520IDENTIFICATION%2520IN%2520HIGH-PERFORMANCE%2520SPORT.doc+Brad+McGregor,+%E2%80%9CThe+Use+of+Gene-Based+Technologies+for+Talent+Identification+in+High-Performance+Sport,%E2%80%9D+Bond+University:+Master+of+Sport+Science&amp;hl=en&amp;ct=clnk&amp;cd=1&amp;client=safari\">The Use of Gene-Based Technologies for Talent Identification in High-Performance Sport<\/a>. Bond University: Master of Sport Science.\u00a0 Retrieved December 10, 2008<\/p>\n<p>Parry, S. (2008, August 13).\u00a0 <a href=\"http:\/\/www.bbc.co.uk\/blogs\/olympics\/2008\/08\/ can_anyone_spoil_phelps_pool_p.html\">What Makes Phelps So Special?<\/a> BBC Sports.\u00a0 Retrieved<br \/>\nDecember 21, 2008<\/p>\n<p>Patel, D.R. and Graydanus, D.E. (2002).\u00a0 Genes and Athletes. Adolescent Medicine. 13(2). pp. 249-255.<\/p>\n<p>Rabin, O. (2006).\u00a0 <a href=\"http:\/\/www.wada- ama.org\/rtecontent\/document\/3_1_Rabin_Abst.pdf\">WADA Program and Perspectives on Gene Doping Detection.\u00a0 World Anti-Doping Agency<\/a> (PDF).\u00a0 Retrieved February 6, 2009http:\/\/www.wada- ama.org\/rtecontent\/document\/3_1_Rabin_Abst.pdf<\/p>\n<p>Rankinen, T., M. S. Bray, J. M. Hagberg, L. Perusse, S. M. Roth, B. Wolfarth, and C. Bouchard. (2006).\u00a0 The Human Gene Map for Performance and Health-Related Fitness Pheotypes: The 2005 Update. The American College of Sports Medicine. 1863-1888.<\/p>\n<p>Smith, D. J. (2003).\u00a0 Framework for Understanding the Training Process Leading to Elite Performance.\u00a0 Sports Med, 33(15). 1103- 1126.<\/p>\n<p>Yang, N., D. G. MacArthur, J.P. Gulbin, A. G. Hahn, A. H. Beggs, S. Easteal, and K. North. (2003). ACTN3 Genotype is Associated with Human Elite Athletic Performance. The American Journal of Human Genetics ,73(3). 627-631.<\/p>\n<div class=\"zemanta-pixie\" style=\"margin-top: 10px; height: 15px;\"><a class=\"zemanta-pixie-a\" title=\"Reblog this post [with Zemanta]\" href=\"http:\/\/reblog.zemanta.com\/zemified\/8ea38971-5e87-47fc-8d13-e79972b3d316\/\"><img decoding=\"async\" class=\"zemanta-pixie-img\" style=\"border: medium none; float: right;\" src=\"http:\/\/img.zemanta.com\/reblog_e.png?x-id=8ea38971-5e87-47fc-8d13-e79972b3d316\" alt=\"Reblog this post [with Zemanta]\" \/><\/a><span class=\"zem-script more-related pretty-attribution\"><script src=\"http:\/\/static.zemanta.com\/readside\/loader.js\" type=\"text\/javascript\"><\/script><\/span><\/div>\n","protected":false},"excerpt":{"rendered":"<p>The Makings of an Olympian Introduction The dimensions of becoming an Olympic champion are very complex.\u00a0 It involves countless hours of training and exercising, both in and out of the gym, but also requires being motivated, patient, and passionate.\u00a0 While all those traits may contribute to the package, what may truly define the greatness of [&hellip;]<\/p>\n","protected":false},"author":495,"featured_media":0,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[3355],"tags":[3356,1607,56,54,826,3357],"class_list":["post-40","post","type-post","status-publish","format-standard","hentry","category-gene-doping","tag-doping","tag-gene","tag-olympics","tag-sport","tag-sports","tag-vanoc"],"_links":{"self":[{"href":"https:\/\/blogs.ubc.ca\/geneticsinsport\/wp-json\/wp\/v2\/posts\/40","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/blogs.ubc.ca\/geneticsinsport\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/blogs.ubc.ca\/geneticsinsport\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/blogs.ubc.ca\/geneticsinsport\/wp-json\/wp\/v2\/users\/495"}],"replies":[{"embeddable":true,"href":"https:\/\/blogs.ubc.ca\/geneticsinsport\/wp-json\/wp\/v2\/comments?post=40"}],"version-history":[{"count":8,"href":"https:\/\/blogs.ubc.ca\/geneticsinsport\/wp-json\/wp\/v2\/posts\/40\/revisions"}],"predecessor-version":[{"id":46,"href":"https:\/\/blogs.ubc.ca\/geneticsinsport\/wp-json\/wp\/v2\/posts\/40\/revisions\/46"}],"wp:attachment":[{"href":"https:\/\/blogs.ubc.ca\/geneticsinsport\/wp-json\/wp\/v2\/media?parent=40"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blogs.ubc.ca\/geneticsinsport\/wp-json\/wp\/v2\/categories?post=40"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blogs.ubc.ca\/geneticsinsport\/wp-json\/wp\/v2\/tags?post=40"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}