International Cycling Congress 6-8 February 2014 , Palma de Mallorca, Spain
GENETIC POLYMORPHISMS IN CYCLIC ENDURANCE SPORTS: CYCLING, ROWING AND RUNNING Dr. Carlos Muniesa Ferrero, Universidad Europea de Madrid
Index Part one. Introduction Part two. Practical applications Part three. Final thoughts
Dr. Carlos Muniesa Ferrero, Universidad Europea de Madrid
Introduction • How can many factors affect sports performance? • The sport gradually needs support from more specialists. • We have to consider the athlete as a whole.
• "There are no diseases, just sick people“. This could also be said in the field of sports. • Athletes put their trust in the coach, he must meet the requirements. The coach is nowadays a manager. • Genetics is a new science supporting sport.
Dr. Carlos Muniesa Ferrero, Universidad Europea de Madrid
• • • • •
Medicine Psycholgy Biology Sociology Physics…
Introduction • How can genetics help us to better understand the athletic performance? • First, it can give an answer to a recurrent question in the field of sport. • Are athletes born or made?
Dr. Carlos Muniesa Ferrero, Universidad Europea de Madrid
Introduction • The answer, debated for a long time, seems clear. • Athletes would be born with certain aptitudes, they would have to develop these aptitudes. • We call these aptitudes SPORTING TALENT. • There is not a universal talent.
Dr. Carlos Muniesa Ferrero, Universidad Europea de Madrid
Introduction • Each sport requires a different profile of model athlete. This model can even evolve over time. • Within each sport, we can find different profiles of sporting talents. • This is the case of cycling.
Dr. Carlos Muniesa Ferrero, Universidad Europea de Madrid
Introduction • Therefore, we will have to specify the main characteristics of each sport. • Depending on the variables associated to each sport, the subject may benefit or not according to his/her genotype. • From now on, one can start to look after CANDIDATE GENES that may have an influence on athletic performance.
Dr. Carlos Muniesa Ferrero, Universidad Europea de Madrid
Introduction
Dr. Carlos Muniesa Ferrero, Universidad Europea de Madrid
Introduction • PHENOTYPES ASSOCIATED WITH SPORTS PERFORMANCE: There are numerous polymorphisms related to sports performance or trainability.
• Analyzing this variability can be important in order to know the response capacity of an individual to exercise or training.
• The influence of a particular gene can be affected by many other genes, therefore we will need to analyze the situation from a polygenic PERSPECTIVE.
Dr. Carlos Muniesa Ferrero, Universidad Europea de Madrid
Introduction P O S S I B L E
A P P L I C A T I O N S
• TALENT SELECTION: The knowledge of the individual genetic endowment could help to advise athletes. • PRACTICAL APPLICATIONS IN TRAINING: To favor customized training plans, especially in sports that require a combination of physical aptitudes. • PREVENTION: In order to rule out occult diseases that threaten the health and even the life of the athlete. • GENETIC THERAPY AND SPORT: Generating new medical treatments with application in the world of sports.
Dr. Carlos Muniesa Ferrero, Universidad Europea de Madrid
Introduction Could we modify our genome?
In fact, we have been doing it for centuries.
Dr. Carlos Muniesa Ferrero, Universidad Europea de Madrid
Introduction Could we modify our genome?
But nowadays, new opportunities arise.
Dr. Carlos Muniesa Ferrero, Universidad Europea de Madrid
Practical applications • Road cycling is a cyclic sport.
• In this sense, cycling resembles rowing, although there are more muscle groups involved in this latter sport .
• The third selected sport, running, is also a cyclic and endurance sport
Dr. Carlos Muniesa Ferrero, Universidad Europea de Madrid
Practical applications • 50 professional cyclists, all of whom had participated and completed the world’s most important competition, the Tour de France, including several stage winner whose VO2 max was 73.5 mL/kg/min.
• 39 rowers, whose average VO2 max was 71.4 mL/kg/min. Inclusion criteria: to have obtained at least a medal in the World Rowing Championships. • 52 Olympic class runners, specialists in distances between 5,000 meters and marathon (42.195 meters), VO2 max was 73.3 mL/kg/min, including world and European champions and also Olympic medalists and finalists. • 123 nonathletic and apparently healthy control subjects.
Muniesa, CA, González-Freire, M, Santiago, C, Lao JI, Buxens A, Rubio JC, Martín, MA, Arenas, J, Gomez-Gallego, F, Lucia A. World-class performance in lightweight rowing: is it genetically influenced? A comparison with cyclists, runners and nonathletes. Br J Sports Med.44:898-901, 2010.
Dr. Carlos Muniesa Ferrero, Universidad Europea de Madrid
Practical applications •
ACTN 3, the speed gene. R and X alleles.
•
It codifies for α-Actinin-3 in the skeletal muscle fibers, being responsible for fast contraction and for avoiding damage caused by eccentric muscle contraction.
•
Athletes in speed disciplines had a major frequency of the RR genotype. Nonetheless, one can also find homozygous XX subjects showing good results in speed tests.
•
One could expect a relation between the XX genotype and performance in endurance sports, but there are more studies refusing than supporting this theory.
Dr. Carlos Muniesa Ferrero, Universidad Europea de Madrid
Practical applications • ECA. It has two alleles, one insertion allele I and one deletion allele I. • The gene for the angiotensin-converting enzyme has an influence on the muscular response to training in terms of efficiency and muscle hypertrophy.
• The D allele is associated to an increase in the activity of the ACE enzyme, this leads to an increase in the levels of angiotensin II (vasoconstrictor), which plays an important role as muscle growth factor, positively affecting the capacity to produce force. • The I allele is associated to a reduced activity of the enzyme and therefore a smaller increase in the levels of angiotensin II. This implies a lower level of afterload, facilitating the work of the heart pump and positively influencing endurance sports.
Dr. Carlos Muniesa Ferrero, Universidad Europea de Madrid
Practical applications • The Hereditary hemochromatosis gene (HFE) is related to the ability to absorb iron supplements without adverse health effects. • In the field of endurance sports, the fact of having good levels of blood iron facilitates the transport of oxygen to the muscle fibers.
• A low level of iron in the blood is one of the Achilles heels of athletes as it because it is linked to both their competitive performance and their training ability. • Women athletes are often particularly sensitive to this problem.
Dr. Carlos Muniesa Ferrero, Universidad Europea de Madrid
Practical applications Polymorphisms’ distribution of ACTN3
(P= 0.763)
100% 17,9
80% 60%
53,7
26
17,3
46
57,7
23,1
20,1
43,6
51,5
XX RX
40% 20%
RR 28,5
28
Controles
Ciclistas
25
33,3
28,4
0%
Dr. Carlos Muniesa Ferrero, Universidad Europea de Madrid
Corredores Remeros
Total
Practical applications Polymorphisms’ distribution of ECA 100% 19,4
60%
22,3
40,4
46
30
51,3
II 40,2
26,9
40% 20%
10,3
20
80%
(P=0.004)
50 34,7
DD
32,7
38,5
37,9
Corredores
Remeros
Total
0%
Controles
Ciclistas
Dr. Carlos Muniesa Ferrero, Universidad Europea de Madrid
ID
Practical applications Polymorphisms’ distribution of HFE 100% 80%
8,9
6
9,6
(P =0.03)
0
7,2
23,1 24,4
42
30,7
40,4
60% 40%
DD
HD 66,7
20%
76,9 52
50
Ciclistas
Corredores
HH 62,1
0% Controles
Dr. Carlos Muniesa Ferrero, Universidad Europea de Madrid
Remeros
Total
Practical applications • None of the rowers had the genotypic combination of "extreme resistance" ACE II + ACTN · XX, compared to 4 cyclists and 4 runners.
• Rowing is a combined strength-endurance sport. Road cycling and running require muscular efficiency, favored by genotype II
• Endurance athletes can not be considered together in genetic studies, as has been done in the initial studies.
Dr. Carlos Muniesa Ferrero, Universidad Europea de Madrid
Practical applications • Multigenic studies are needed, but how can we evaluate the results on a practical level?
• A feasible tool can be the model of Williams.
• A scoring system (0, 1 or 2 points), would be assigned depending on the suitability of the genotype.
• We could then obtain the PGT.
Dr. Carlos Muniesa Ferrero, Universidad Europea de Madrid
Practical applications Frequency distribution for PGT
Dr. Carlos Muniesa Ferrero, Universidad Europea de Madrid
Final thoughts • We should not ask for more than we can achieve. • Sport is not a science, it is a reality with multiple implications in science.
• Genetics joins sports sciences.
BELIVE! Dr. Carlos Muniesa Ferrero, Universidad Europea de Madrid
International Cycling Congress 6-8 February 2014 , Palma de Mallorca, Spain
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