Genes and sports: how heredity defines our sports capabilities

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Genes and sports: how heredity defines our sports capabilities

Section 1: Foundation of Genetics and Sports

  1. Introduction to the human genome and his role in sports:

    • Human genome: drawing of life: The human genome, consisting of DNA, is a complete set of genetic instructions that determine the development, functioning and characteristics of the body. It consists of approximately 3 billion pairs of DNA bases organized in 23 pairs of chromosomes located in the nucleus of each cell. The genome contains genes that encode proteins, which are construction blocks of cells and tissues, as well as regulatory elements that control genes activity.
    • Genes as building blocks of sports abilities: Genes play a key role in determining physiological characteristics that affect sports achievements. These characteristics include:
      • Type of muscle fibers: The ratio of slow (type I) and fast (type II) muscle fibers affecting endurance and strength.
      • Maximum oxygen consumption (VO2 max): The body’s ability to absorb and use oxygen during intense exercises that determines cardiorespirator endurance.
      • The strength and power of muscles: The ability of muscles to generate strength and power that affects sprint, jumps and weight lifting.
      • Body composition: The ratio of muscle mass and fat in the body, affecting strength, endurance and dexterity.
      • Flexibility and mobility of the joints: The range of movement in the joints, affecting the risk of injuries and the effectiveness of movements.
      • Psychological factors: Motivation, stress resistance and the ability to concentrate, affecting sports results.
    • The interaction of genes and the environment: Sports abilities are not exclusively determined by genes. The environment, including nutrition, training, living conditions and psychological factors, also plays an important role. The interaction between genes and the environment means that a genetic predisposition can be realized or limited by environmental factors. For example, a person with a genetic predisposition to high endurance may not reach his potential if he does not regularly train and eat right.
    • Epigenetics: the influence of the environment on the expression of genes: Epigenetics studies changes in genes expression that are not associated with changes in the sequence of DNA. These changes can be caused by environmental factors, such as nutrition, stress and physical exercises. Epigenetic changes can affect sports abilities by changing the activity of genes associated with muscle growth, endurance and restoration after training.

  2. The main genetic terms and concepts important for understanding sports genetics:

    • Gene: The main unit of heredity, a DNA section encoding a certain protein or RNA.
    • Allele: Gene option. Each person inherits two alleles for each gene, one from each parent.
    • Genotype: The genetic constitution of an individual, determined by a set of alleles for a particular gene or genes.
    • Phenotype: The observed characteristics of the individual, which are the result of the interaction of the genotype and the environment.
    • Heredity: The measure of the extent to which the differences in the phenotype between individuals are associated with the differences in their genotype. Heredity is expressed in the form of a coefficient of heredity, which varies from 0 to 1. The coefficient of heredity 0 means that the differences in the phenotype are not related to genetic factors, and the coefficient of heredity 1 means that the differences in the phenotype are completely determined by genetic factors.
    • Polymorphism: Variation in the DNA sequence found in a population with a frequency of more than 1%. One -okleotide polymorphism (SNP) is the most common type of polymorphism and is a change in one nucleotide in the DNA sequence.
    • Genetic Association: The relationship between a certain genetic variant and a specific sign or disease. Genetic associations do not necessarily mean a causal relationship.
    • Genome sequestration: Determination of the complete sequence of DNA of the body.
    • Genetic testing: DNA analysis to identify genetic options associated with certain features or diseases.
    • Personalized medicine: The approach to treatment based on the individual genetic characteristics of the patient. In sports, personalized medicine can be used to develop individual training programs and diets based on the genetic predisposition of the athlete.

  3. Research methods in sports genetics: from twin studies to genomic sequencing:

    • Twin research: A comparison of the similarity between monozygous (one -eating) and dizigative (bilingual) twins to evaluate the heredity of signs. Since monozygous twins have an identical genotype, and the dizigate twins have an average of 50% of the total genes, the differences between monozygous twins are usually explained by environmental factors, while the differences between dizygulating twins can be caused by both genetic and environmental factors. Gemini studies make it possible to evaluate the extent to what genetics affects sports abilities, comparing the similarity in the sports results between monozygous and dizygot twins.
    • Family research: Analysis of pedigree for determining the inheritance of sports abilities. Family studies can identify genetic factors that are transmitted from generation to generation and affect sports achievements.
    • Studies of genetic associations (GWAS): Search for genetic options (for example, SNP) that are associated with certain sports signs. GWAS is carried out by comparing the genomes of large groups of athletes with various levels of sports achievements. If a certain genetic version is more common among athletes with a high level of sports achievements, this may indicate that this option is associated with this feature.
    • Sequinization of exhibits and genomes: Determination of the sequence of encoding areas (exons) of the genome or the entire genome to identify rare genetic options affecting sports abilities. Sequencing of the exom and genome can identify genetic mutations that can affect muscle development, cardiovascular system or metabolism, thereby affecting sports achievements.
    • Analysis of genes expression (transcription): Measuring the activity of genes in various tissues (for example, muscles) to determine the influence of genetic factors on physiological processes associated with sports. Transcriptomy can reveal how genetic options affect the expression of genes associated with muscle growth, endurance and restoration after training.
    • DNA methylation analysis (epigenomy): The study of changes in DNA methylation affecting the expression of genes and sports abilities. Epigenomy can reveal how environmental factors, such as nutrition and training, affect DNA methylation and expression of genes associated with sports achievements.

Section 2: Genes affecting various aspects of sports activities

  1. Genes that determine the type of muscle fibers (ACTN3, ACE and others):

    • ActN3 (Alpha-Akyin-3): One of the most studied genes in sports genetics. It encodes the alpha-actin-3 protein, which is expressed in fast (type II) muscle fibers. The Actn3 Gena version of the ActN3 gene, in which Arginine (R) is replaced by a stop-codon (X), leads to a deficiency of alpha-actinin-3 in rapid muscle fibers. Studies have shown that the XX of the R577X genotype is more often found in endurance athletes, while the RR genotype is more often found in athletes involved in power sports. This assumes that alpha actinin-3 plays an important role in the functioning of fast muscle fibers, and its deficit can be useful for endurance athletes, since it can improve the efficiency of energy use.
    • ACE (angiotensin-crumbling enzyme): This gene encodes an enzyme involved in the regulation of blood pressure and blood volume. Inersion (I) or deletion (D) of DNA sequence in the ACE gene leads to the formation of three genotypes: II, ID and DD. Studies have shown that option I of the ACE gene is associated with increased endurance and more efficient use of oxygen, while option D is associated with increased strength and power. This suggests that ACE plays an important role in the regulation of the cardiovascular system and metabolism, which affects sports achievements.
    • Other genes affecting the type of muscle fibers: Other genes, such as Myod1, Myog, and Ppargc1a, also play a role in the development and functioning of muscle fibers. Myod1 and Myog are the key regulators of myigenesis (the formation of muscle fibers), and PPARGC1A is involved in the regulation of energy metabolism in the muscles. Polymorphisms in these genes can affect the ratio of slow and fast muscle fibers, thereby affecting sports abilities.

  2. Genes that determine the cardiorespirator endurance (VO2 max) (HIF1A, VEGF and others):

    • HIF1A (factor induced by hypoxia 1 alpha): This gene encodes a protein that plays a key role in the adaptation of the body to a lack of oxygen (hypoxia). HIF1A activates the expression of genes involved in angiogenesis (the formation of new blood vessels), erythropoeze (erythrocyte formation) and glycolysis (glucose breakdown). Polymorphisms in the HIF1A gene can affect the body’s ability to adapt to hypoxia, thereby affecting VO2 Max and endurance.
    • VEGF (vascular endothelium factor): This gene encodes a protein that stimulates angiogenesis. VEGF plays an important role in increasing the blood supply to muscles during training, which improves oxygen and nutrient delivery. Polymorphisms in the VEGF gene can affect the body’s ability to increase the blood supply to the muscles, thereby affecting VO2 Max and endurance.
    • Other genes affecting VO2 Max: Other genes, such as PPARA, PPARGC1A and EPAS1, also play a role in the regulation of cardiorespiration endurance. PPARA and PPARGC1A are involved in the regulation of energy metabolism in the muscles, and EPAS1 is another factor induced by hypoxia, which regulates the expression of genes involved in adaptation to hypoxia. Polymorphisms in these genes can affect the body’s ability to absorb and use oxygen during intense exercises, thereby affecting VO2 Max.

  3. Genes affecting the strength and power of muscles (MSTN, IGF1 and others):

    • Mstn (mystatin): This gene encodes a protein that inhibits muscle growth. Mutations in the MSTN gene, leading to a deficiency of myostatin, lead to a significant increase in muscle mass and strength. An example is the case of a Belgian blue breed of cows, in which a mutation in the MSTN gene leads to muscle hypertrophy. In people, mutations in the MSTN gene are rare, but studies have shown that polymorphisms in this can affect the strength and power of muscles.
    • IGF1 (insulin -like growth factor 1): This gene encodes a protein that stimulates the growth and development of tissues, including muscles. IGF1 plays an important role in adapting muscles to training, stimulating protein synthesis and muscle hypertrophy. Polymorphisms in the IGF1 gene can affect the body’s ability to stimulate muscle growth, thereby affecting the strength and power of muscles.
    • Other genes affecting the strength and power of muscles: Other genes, such as VDR (vitamin D receptor), COL1A1 (collagen type I alpha 1) and IL6 (Interleukin 6), also play a role in the regulation of the strength and power of muscles. VDR is involved in the regulation of the metabolism of calcium and bone health, COL1A1 is the main component of tendons and ligaments, and IL6 is a cytokine involved in the inflammatory response and muscle restoration after training. Polymorphisms in these genes can affect the strength and power of muscles, as well as the risk of injuries.

  4. Body composition genes (FTO, PPARG and others):

    • FTO (obesity gene): This gene is associated with the risk of obesity and metabolic disorders. Polymorphism RS9939609 in the FTO gene is associated with increased calorie consumption and an increased risk of obesity. Although FTO is not directly a genome that determines sports abilities, it can affect sports results, affecting the composition of the body and metabolism.
    • PPARG (receptor activated by proliferators with the gamma peroxis): This gene encodes a protein that plays a key role in the regulation of the metabolism of fats and glucose. Polymorphisms in the PPARG gene can affect the distribution of fat in the body and sensitivity to insulin. Although PPARG is not directly a genome that determines sports abilities, it can affect sports results, affecting the composition of the body and metabolism.
    • Other genes affecting the composition of the body: Other genes, such as LEPR (Leptine receptor) and MC4R (melanocortin receptor 4), also play a role in the regulation of appetite and metabolism. LEPR is a leptin hormone receptor that regulates appetite and energy balance, and MC4R is a melanocortine receptor, which also regulates appetite and energy balance. Polymorphisms in these genes can affect the composition of the body and metabolism, thereby affecting sports results.

  5. Genes affecting the flexibility and mobility of the joints (COL5A1 and others):

    • Col5a1 (type V alpha 1): This gene encodes protein, which is a component of collagen, the main structural protein of connective tissue, including tendons and ligaments. Polymorphisms in the COL5A1 gene can affect the structure and function of collagen, thereby affecting the flexibility and mobility of the joints. Some studies have shown that certain variants of the COL5A1 gene are associated with increased flexibility and increased risk of shoulder dislocations.
    • Other genes affecting the flexibility and mobility of the joints: Other genes, such as TNXB (Tenascin X) and COMP (cartilaginous oligomer matrix protein), also play a role in the regulation of flexibility and mobility of the joints. TNXB is a component of the extracellular matrix that supports the structure of connective tissue, and the COMP is a protein that is involved in the organization of cartilage. Polymorphisms in these genes can affect the structure and function of connective tissue, thereby affecting the flexibility and mobility of the joints.

  6. Genes affecting the psychological aspects of sports activities (5-HttLPR, DRD4 and others):

    • 5-HTTLPR (serotonin transporter): This gene encodes a protein that transports serotonin, neurotransmitter, participating in the regulation of mood, sleep and appetite. 5-HTTLPR gene variants are divided into short (s) and long (l) alleles. Studies have shown that the 5-HTTLPR gene variant is associated with increased anxiety and susceptibility to stress, while option L is associated with greater resistance to stress. In sports, the option L can be useful for athletes who need to cope with a high level of stress and pressure.
    • DRD4 (dopamine receptor D4): This gene encodes a protein, which is a receptor of dopamine, neurotransmitter, participating in the regulation of motivation, reward and attention. DRD4 gene variants vary by the number of repetitions of a certain DNA sequence. Studies have shown that certain DRD4 variants are associated with increased thrust for new sensations and risk, which can be useful for athletes involved in extreme sports.
    • Other genes affecting the psychological aspects of sports activities: Other genes, such as BDNF (neurotrophic factor of the brain) and COMT (Catechol-O-methyltransferase), also play a role in the regulation of psychological aspects of sports activity. BDNF is involved in the growth and development of nerve cells, and COMT is involved in dopamine metabolism. Polymorphisms in these genes can affect the motivation, concentration and resistance to stress, thereby affecting sports results.

Section 3: Practical use of sports genetics

  1. Genetic testing in sports: opportunities and restrictions:

    • Determination of a genetic predisposition to certain sports: Genetic testing can reveal genetic options associated with certain sports characteristics, such as the type of muscle fibers, VO2 Max, the strength and power of muscles. This can help athletes and trainers determine sports in which the athlete can have a genetic predisposition to success.
    • Development of individual training programs: Genetic testing can help develop individual training programs based on the genetic predisposition of the athlete. For example, an athlete with a genetic predisposition to endurance can benefit from training aimed at improving VO2 Max, while an athlete with a genetic predisposition to force can benefit from training aimed at increasing muscle mass.
    • Prediction of the risk of injuries: Genetic testing can reveal genetic options associated with an increased risk of injuries, such as bone breaks and bone fractures. This can help athletes and trainers take precautions to prevent injuries, such as using special exercises and protective equipment.
    • Genetic testing restrictions:
      • Environmental influence: Genetic tests cannot predict sports achievements with absolute confidence, since sports results depend not only on genetics, but also on the environment, including nutrition, training, living conditions and psychological factors.
      • Incompleteness of knowledge: Knowledge of sports genetics is still developing, and many genetic options affecting sports abilities are not yet identified.
      • Ethical questions: Genetic testing in sports causes ethical issues, such as the confidentiality of genetic information, the possibility of discrimination based on genetic data and the use of genetic tests for breeding athletes.

  2. Personalized training and food based on genetic data:

    • Training adapted to the genetic profile: Knowing the athlete’s genetic profile, you can develop training programs that will be more effective and safe. For example, an athlete with a genetic predisposition to power can benefit from more intense training with weights, while an athlete with a genetic predisposition to endurance can benefit from longer and less intense training.
    • Nutrition adapted to the genetic profile: The athlete’s genetic profile can also affect his nutrition needs. For example, an athlete with a genetic predisposition to obesity may need a low calorie diet and a high protein content, while an athlete with a genetic predisposition to vitamin D deficiency may need vitamin D.
    • Examples of personalized training and nutrition:
      • Actn3: Acts with the ActN3 genotype genotype are recommended to give preference to strength training and sprint, while athletes with genotype XX are recommended to give preference to endurance training.
      • ACE: Athletes with genotype II ACE Gene are recommended to give preference to endurance training, while athletes with the DD genotype are recommended to give preference to strength training.
      • VDR: Athletes with a genetic predisposition to vitamin D deficiency are recommended to take vitamin D additives to maintain the health of bones and muscles.

  3. Ethical and social aspects of genetic testing in sports:

    • Confidentiality of genetic information: Genetic information is personal and confidential, and it is important to protect it from unauthorized access and use.
    • Discrimination based on genetic data: There is a risk that genetic information can be used to discriminate athletes, for example, when selecting teams or in the distribution of resources.
    • Using genetic tests for breeding athletes: There is concern that genetic testing can be used to breed athletes based on their genetic predisposition, which can lead to the exclusion of talented athletes who do not have a “correct” genotype.
    • Justice and equal opportunities: It is important to ensure that genetic testing does not lead to injustice and unequal opportunities in sports.
    • Education and informed consent: Athletes should be informed about the capabilities and restrictions of genetic testing, as well as the risks and advantages of using genetic information. They should give informed consent to conduct genetic testing and the use of their genetic information.

Section 4: Future of sports genetics

  1. New horizons: genomic editing and genetic therapy in sports (potential and risks):

    • Genomic editing (CRISPR-CAS9): Technology that allows you to accurately change the DNA sequence. Theoretically, genomic editing can be used to improve sports abilities by changing genes associated with strength, endurance and other qualities. However, genomic editing is a new and not fully studied technology, and there are risks associated with its use, such as inappropriate effects and long -term health consequences.
    • Gene therapy: A technology that allows introducing genes into the cells of the body to treat diseases or improve certain functions. Theoretically, gene therapy can be used to improve sports abilities by introducing genes associated with strength, endurance and other qualities. However, genetic therapy is also new and not fully studied technology, and there are risks associated with its use, such as immune reaction and the risk of cancer.
    • Potential and risks:
      • Potential: Genomatic editing and genetic therapy can revolutionize sport, allowing athletes to achieve results that were previously impossible.
      • Risks: There are serious ethical and medical risks associated with the use of genomic editing and genetic therapy in sports, such as violation of justice, the creation of “super sportsmen” who will have an unfair advantage, and risks for the health of athletes.
    • Normative regulation: It is important to develop regulatory regulation for the use of genomic editing and genetic therapy in sports in order to ensure security and justice.

  2. Integration of genetic data with other data (physiological, training) to optimize sports results:

    • Multimica: An approach uniting data from various “ohmic” disciplines, such as genomics, transcription, proteomics and metabolomics, to obtain a more complete idea of biological processes affecting sports results.
    • Integration of genetic data with physiological data: The combination of genetic data with data on physiological indicators, such as VO2 Max, the heart rate and body composition, can help develop more effective training programs and diets.
    • Integration of genetic data with training data: The combination of genetic data with data on training loads, such as the volume and intensity of training, can help prevent overtraining and injuries.
    • Artificial intelligence and machine learning: Artificial intelligence and machine learning can be used to analyze large data arrays (Big Data) and identify complex relationships between genetic, physiological and training data, which will develop more personalized training and nutrition strategies.

  3. Prospects for the development of sports genetics and its influence on the future of sports:

    • A deeper understanding of the genetic basis of sports abilities: As technologies for sequencing the genome and data analysis develop, we will receive more and more knowledge about genetic factors affecting sports abilities.
    • Development of more effective and personalized training programs and diets: Sports genetics will develop more effective and personalized training programs and diets based on the genetic predisposition of athletes.
    • More accurate prediction of the risk of injuries: Sports genetics will more accurately predict the risk of injuries and take precautions to prevent them.
    • Ethical and social challenges: The development of sports genetics will create new ethical and social challenges that will need to be solved in order to ensure justice and equal opportunities in sports.
    • Future of sports: Sports genetics will have an increasing influence on the future of sports, but it is important to remember that genetics is only one of the factors that determine sports achievements. Personality, hard work, motivation and a favorable environment also play an important role in success in sports.

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