Genetic Mapping in Sports #sportslaw #sportscience

 

Introduction

Genetic mapping provides a powerful approach to identify genes and biological processes underlying any trait influenced by inheritance, including human diseases. Genetic mapping also called linkage mapping can offer firm evidence that a disease transmitted from parent to child is linked to one or more genes. Mapping also provides clues about which chromosome contains the gene and precisely where the gene lies on that chromosome.

Genetic maps have been used successfully to find the gene responsible for relatively rare, single-gene inherited disorders. Genetic maps are also useful in guiding scientists to the many genes that are believed to play a role in the development of more common disorders such as asthma, heart disease, diabetes, cancer, and psychiatric conditions.

Our genome is the complete set of genes or genetic material that is present in an organism. The genome contains all of the genes that make us who we are.

 

Genetic mapping and its relation with sports

Our genetic makeup plays a bigger role on our athletic ability than we may think. A person may train their entire life for the sport that they love, but if they are not born with the athletic predisposition with the genes required to excel at that sport, they will unfortunately never become the best of the best.[1]

Genetic markers can be identified that can help explain the variability of a single key factor that can help preclude the possibility of becoming an elite athlete. Some of these markers include ACTN3, ACE and AMPD1.

  • The amount of energy a muscle can release is also predetermined by our genes. The adenosine monophosphate deaminase (AMPD) gene is very important in this, as it is a regulator of muscle energy metabolism during exercise.
  • Another type of gene associated with athletic ability is ACTN3, otherwise known as the “speed gene.” This gene is found in fast-twitch muscle fibers. ACTN3 helps produce explosive bursts in speed and power athletes, specifically sprinters, who outrun everyone else. ). The majority of the elite sprinters in the world have at least one copy of this gene, giving them the advantage they have. Endurance runners and athletes can have a copy of this gene, but it is not as active in them because they were given slow-twitch fibers.
  • Along with training, genetics plays the main role in the athletics we enjoy. Even though some people may not be happy to hear the sad news that they will not become professional athlete if they are not genetically equipped for the sport they love, there is nothing stopping them from still playing the sport.

    List of the Pros of the Human Genome Project

    1. It could help with the diagnosis and prevention of human disease.
      As we get to know more about the human body, we can understand how to manage and cure various conditions. Understanding our genetic profile means doctors could diagnose conditions with more certainty, even if they are rare. This would lead to more early detection incidents. Over time, the prognosis rate would increase.

     

    1. It would allow us to modify medication for more effective treatment cycles.
      Medications before the genome was mapped were based on a one-size-fits-all solution. The medicine either worked for you, or it did not.

     

    1. It could improve criminal justice proceedings.Our human genome is part of what makes each of us unique. Because of the DNA studies which were part of HGP, we have begun to develop a process called “DNA fingerprinting.” By comparing DNA samples, one from an individual and another collected, we have another method of identifying people who may have committed a crime. As the science behind this process continues to improve, our systems of criminal justice can become more effective.

     

    1. It helped to boost the economy. The Human Genome Project was very successful from an economic standpoint. During its time of operation, more than 4 million people were employed by the project. It created nearly $1 trillion in economic stimulus. Numerous positions currently exist because of the research and work that the project completed.

     

    1. It can help more than just humans. We’ve taken our understanding of the human genome and applied that science to other types of life. We now know that animals and plants have their own unique genome as well. By evaluating the health and strength of each genome, we can begin to grow even better plants. We can help to create animals that are much healthier. In both efforts, we’re working toward the elimination of diseases that once had a profound impact on agriculture.

     

    List of the Cons of the Human Genome Project

    1. It may cause a loss in human diversity. What makes humanity such a strong race is its diversity. Although diversity can have negative components to it, such as genetic defects or mutations, it also strengthens us in numerous ways. Through diversity, we gain new perspectives. We have more creativity. We even have a stronger physical base for our overall genetic profile as a species. If we grow towards restricting the genetic pool for humanity instead of expanding it, then we may become weaker as a race.

     

    1. It could develop a trend in “designer” humans. With an ability to control the basic genes of a human, we gain the ability to create specific genetic profiles. Reproduction would become more about what could be done in a laboratory. Although this may strengthen the overall genetic profile of humanity with certain key traits, it would also create societies where everyone was essentially the same – if there was enough money involved.

     

    1. Its information could be used to form new weapons. Genetic information could be used to specifically tailor weapons to focus on population demographics.

     

    1. It could become the foundation of genetic racism. If humans can be designed in a specific way through information developed by the Human Genome Project, then we would create the foundation for a new form of “haves” vs “have nots.” Those who could afford the procedures to create genetically-specific humans would have an advantage over those who could not. Over time, this could lend itself toward societies that prefer “designed” people over “natural” people. That would create a new form of racism that is based not on skin color, gender preference, or sexual preferences, but on the actual genetic makeup of the individual.

     

    1. Results may trigger emotions: Finding out that a gene mutation is absent can offer a deep sense of relief. And others who find out that they are carriers can take comfort in having more control. It may spark deep feelings of guilt (regardless of findings) or difficult decisions.

     

    Genome information can bring about a lot of good… or evil, depending on who holds the keys to the technology.

     

    Legal / Ethical issues

     History is dotted with a long line of milestone discoveries that are widely recognized as turning points in science. The advent of a powerful technique for editing the genome – called CRISPR-Cas9 – is certain to go down as one of those defining moments. CRISPR-Cas9 differs from other methods of gene editing, in part because it is simple, fast and cheap, so it is sensible to worry about potential misuse.

    It can be used to cure genetic diseases, but also to enhance qualities like beauty or intelligence. Ethicists, for decades, have been concerned about the dangers of altering the human germline — meaning to make changes to human sperm, eggs or embryos that will last through the life of the individual and be passed on to future generations.

    Recombinant DNA was the first in a series of ever-improving steps for manipulating genetic material. The chief problem has always been one of accuracy of editing the DNA at precisely the intended site, since any off-target change could be lethal. Many ethicists have accepted the idea of gene therapy, changes that die with the patient, but draw a clear line at altering the germline, since these will extend to future generations.

    There are two broad schools of thought on modifying the human germline, One is pragmatic and seeks to balance benefit and risk. The other “sets up inherent limits on how much humankind should alter nature.

    Governments and regulatory bodies have struggled to write useful policies around science that alters, or could alter, the human genome. On the one hand, potential abuses seem dire: from programs that empower the wealthy and privileged to choose the genetic makeup of their children, to mishaps causing damaging mutations that could be passed from generation to generation. On the other hand, benefits to society from this brand of research are undeniable. Already, IVF is routinely paired with preimplantation genetic testing, which lets mothers avoid giving birth to children with serious diseases.

    The result, the authors conclude, has been a series of vague regulations and moving targets. Countries that have reached for blanket bans on the more menacing aspects of human genome modification―like France, which legislates against “crimes against the human species” ―may, find their laws unenforceable, or else so broad that they scare off useful medical innovations.[2]

    Sickle Cell Test

    In the United States, all college athletes in the National Collegiate Athletic Association (NCAA) are tested for the genetic condition sickle cell trait (SCT). Often, people with SCT do not experience any symptoms, but some reports have shown that they may be at increased risk for health problems and even death under certain conditions, such as intense exercise. Several young men have died in the course of sports practices or games. Following a lawsuit, the National Collegiate Athletic Association (NCAA) began screening all of its athletes for SCT in hopes that universal screening will save lives by making student athletes with SCT and their coaches more aware of the risks and preventative measures. Critics argue that the most effective way to prevent death is not through testing, but rather through improved safety conditions and awareness of dehydration, the dangers of practicing in extreme heat, and muscle exhaustion, which would benefit all players regardless of their genetic profile.[3]

    Hypertrophic Cardiomyopathy

    Hypertrophic cardiomyopathy (HCM) is a disease in which the heart muscle (myocardium) becomes abnormally thick (hypertrophied). The thickened heart muscle can make it harder for the heart to pump blood.

    In some countries, doctors and athletic groups are advocating that all young people playing high-intensity sports, such as soccer and basketball, be screened for a dangerous heart condition called hypertrophic cardiomyopathy (HCM). HCM, a thickening of the heart muscle, is a leading cause of sudden cardiac death in young athletes in the United States. HCM can be detected via a number of physiological tests, including electrocardiogram (ECG). HCM can be caused by mutations in any one of over a dozen genes, making genetic diagnosis relatively complex.

    HCM often first presents when a young athlete collapses and dies on an athletic field. Some doctors, parents, and advocates believe all athletes should be screened for HCM as standard practice for participation in all endurance or high-energy sports. People with HCM are advised not to play high-intensity sports and, in one region in Italy, where children are screened by ECG early in their teenage years, a drop in HCM death rates has been observed. Many believe testing for HCM will save lives, in part by identifying children most at risk and excluding them from high-intensity sports.

    Genetic Test for concussion risk

    A concussion is an injury to the brain that results in temporary loss of normal brain function. It usually is caused by a blow to the head. In many cases, there are no external signs of head trauma. Many people assume that concussions involve a loss of consciousness, but that is not true. In many cases, a person with a concussion never loses consciousness.

    The formal medical definition of concussion is a clinical syndrome characterized by immediate and transient alteration in brain function, including alteration of mental status and level of consciousness, resulting from mechanical force or trauma.

    During the 2014 World Cup, head injuries sustained by the participating soccer players reignited the debate over concussion management after one of Germany’s players took a major hit to the head and continued to play, only to be helped away from the field shortly after. Major League Soccer created a concussion committee in 2010 and instituted a mandatory baseline neuropsychological testing for players. Now, players must be removed from a game immediately if they show signs of a head injury. If a series of cognitive tests are failed, the player must see a team specialist before returning to play and must be symptom free for 24 hours before being allowed to play. However, many worry that the rules are not as strictly enforced as they should be. Dr. Riley Williams, the team physician for the New York Red Bulls, noted, “There’s always a differential between what policy says and what the actual application of the policy is on the field.” FIFA, the international league that governs the World Cup, leaves decisions up to the team.[4]

    Continued….

     

     

Backend Research Contributor – Ayush Pandey

 Image Source

[1} See More – A Gene Ahead of the Game: A Look at Sports Genetics – Eastern Kentucky University

[2] See more- http://www.bio-itworld.com/2016/1/25/how-worlds-governments-have-regulated-human-genome-editing.html

[3] See More – https://pged.org/athletics-genetics

[4] See More – https://www.aans.org/Patients/Neurosurgical-Conditions-and-Treatments/Concussion

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