International SportMed Journal - Volume 7, Issue 3, 2006
Volume 7, Issue 3, 2006
Author Malcolm CollinsSource: International SportMed Journal 7, pp 170 –171 (2006)More Less
Extracted from text ... Application of human genetics in sports medicine and exercise science International SportMed Journal, Vol.7 No.3, 2006, pp. 170-171 http://www.ismj.com Official Journal of FIMS (International Federation of Sports Medicine) 170 ISMJ International SportMed Journal Editorial The application of human genetics in sports medicine and exercise science Dr Malcolm Collins, BSc (Hons), PhD UCT/MRC Research Unit for Exercise Science and Sports Medicine, University of Cape Town, South Africa Over the last several decades there has been an exponential growth in the field of human genetics. The sequencing of the human genome, the deposition of extensive catalogues of DNA sequence variants into ..
Source: International SportMed Journal 7, pp 172 –186 (2006)More Less
A look at the medal podium in almost any international sporting competition reveals that some athletes and certain countries enjoy regular success in particular events. One of the most compelling examples is that of East African runners and their domination of international distance running competition. This phenomenon has led to the suggestion that East Africans possess some inherent genetic advantage predisposing them to superior athletic performances. The concurrent success of athletes of West African ancestry in sprint events appears to have augmented this belief given their similar skin colour. Despite the speculation that African athletes have a genetic advantage, there is no genetic evidence to date to suggest that this is the case, although research is at an early stage. The only available genetic studies of African athletes do not find that these athletes possess a unique genetic makeup; rather they serve to highlight the high degree of genetic diversity in East Africa and also among elite East African athletes. Although genetic contributions to the phenomenal success of East Africans in distance running cannot be excluded, results to date predominantly implicate environmental factors.
Source: International SportMed Journal 7, pp 187 –200 (2006)More Less
<I>Background:</I> The anabolic response of bone to exercise may be strongly influenced by genetic variants; however, to date relatively few studies have identified the genes mediating this response. <br><I>Objective:</I> To determine if common genetic variation modifies the response of bone to exercise and the risk of suffering stress fracture. <br><I>Methods:</I> A PubMed search was undertaken using the terms "exercise", "physical activity", "training", "bone", "remodelling", "turnover", "stress fracture", "gene", "polymorphism", "allele", "genotype". The references of original papers thus identified were scrutinised to identify further suitable studies. <br><I>Results:</I> The literature search revealed 12 suitable studies and analysis of their references a further 2. Only 2 papers were found that attempted to identify a genetic risk factor for stress fractures. This review will detail current knowledge in this neglected area of bone research, seeking to unravel some of the contradictory findings published so far, whilst exploring possible directions for future avenues of research.
Source: International SportMed Journal 7, pp 201 –215 (2006)More Less
Regular participation in physical activities is associated with the risk of developing musculoskeletal injuries, including soft tissue injuries to tendons. Although there is a high incidence of soft tissue injuries, the aetiology of these tendon and other musculoskeletal injuries are not fully understood. Both intrinsic and extrinsic factors have been shown to be associated with tendon injuries. More recently, studies have suggested that there is also, at least in part, a genetic component to sports injuries such as Achilles tendon, rotator cuff and anterior cruciate ligament injuries. <br>Recent research has shown that specific variants of the <I>COL5A1</I> and <I>TNC</I> genes are associated with Achilles tendon injuries in physically active individuals. Both genes encode for important structural components of tendons. The <I>COL5A1</I> gene encodes for a component of type V collagen which forms heterotypic fibres with type I collagen. The protein is believed to play an important role in regulating fibre diameter and strength. The <I>TNC</I> gene, on the other hand, encodes for the extracellular matrix protein tenascin C, which is believed to regulate the tissues response to mechanical load. <br>To date, only variants in two genes have been shown to be associated with Achilles tendon injuries. In future, specific genotypes that are associated with increased risk of tendon and other musculoskeletal injuries may result in prevention and treatment of injuries by identifying higher risk individuals.
Author Bennett FoddySource: International SportMed Journal 7, pp 216 –224 (2006)More Less
It is now possible to improve human sporting performance using genetic enhancements. For the time being, these enhancements bear serious health risks, which give us a clear moral imperative to try to prevent athletes from using them. On the other hand, they will be much harder to detect than normal drug-based performance enhancements, and the available detection methods are likely to be more invasive. In particular, the compulsory genetic testing of athletes needs a strong ethical justification. If the health risks decrease over time, should we continue testing athletes for 'gene doping'? The answers depend on the level of risk, the chance of catching the dopers, the intrusiveness of the testing strategy, and on whether we believe gene doping is really as bad as drug-based doping. This article identifies the cases for which testing can be justified, and those for which it cannot.
Source: International SportMed Journal 7, pp 225 –230 (2006)More Less
The purported rationale of sex verification tests in elite sports was to ensure women competed on equal terms by preventing male impostors masquerading as women from obtaining unfair gender-related advantages in women-only sports events. This review traces the developments and current policies on gender verification of elite women athletes since the inception of sex controls in the1960s. In the advent of sex controls women athletes were forced to parade in the nude before a panel of gynaecologists and were subjected to traumatic and degrading visual genital inspections. Subsequently, screening of female athletes involved genetic-based laboratory testing which was initially based on a simple technique of evaluating a buccal smear for the presence of a Barr body, and more recently the determination of the presence of Y chromosomes or male-related genetic material using PCR amplification of chromosomal DNA extracted from nucleated cells. <br>The publicity surrounding the notorious case of the Spanish national champion hurdler, Maria Patiño, in the 1980s prompted calls for the elimination of sex controls in elite sports. Maria Patiño, who was publicly humiliated when she failed her sex verification test due to androgen resistance, was stripped of her titles and disqualified from competing in women-only sport events, only to be reinstated 3 years later. By then, however, her career as a professional athlete was over. Maria Patiño's case and those of other athletes who had been unjustly excluded from competitive sport prompted changes in the regulations regarding sex verification which brought them in line with the development of elite sport and biomedical science. <br>Women athletes with rare sex-related genetic abnormalities, such as 5-a-steroid-reductase deficiency, complete or almost complete androgen insensitivity, and chromosomal mosaicism, have no unfair gender-related advantages and should not be disqualified from competing in elite sports events. Nor should they be stigmatised and their right to privacy should be guaranteed by sports organizations during the process of gender verification. <br>The abandonment of compulsory sex verification tests of female athletes which was initiated by the International Association of Athletics Federations (IAAF) was later followed by most international sports federations, and in the end also by the International Olympic Committee (IOC), although initially only provisionally. The abandonment of sex verification tests brought an end to the traumatic, demeaning, and unjust regulations bringing them in line with advancements in sport, modern medicine, and science.