Gene Expression, SNPs, and Injury Recovery

Physical activity has a heavy impact on our body composition. Body composition and specific methods like bioimpedance analysis and DEXA can describe an individual’s compartments. The body composition of an athlete impacts their ability to perform, endure and recover from an injury. Also, a particular sport or activity can influence the capacity and development of specific muscle groups. After all, ballerinas don’t have the same body composition as an American football player. However, another crucial factor determining an athlete’s capacity to excel in their discipline is their gene expression. As technology evolves, it allows us to detect SNPs that can determine an individual’s capacity to recover and endure a specific sport. Isn’t the elite athlete status a heritable trait?

Gene for speed

Single Nucleotide Polymorphisms are a substitution of a base, leading to a functional difference. An example of this SNP power in sports is the variation in the ACTN3, R577X in elite-power athletes. In this case, there exists a C-to-T base substitution that results in the transformation of an arginine base to a stop codon. This stop codon, X, results in a deficiency of the protein alfa-actin-3, expressed in fast-twitch muscle fibers. As this protein is crucial for high speed-power performance, individuals with the stop codon X might not excel or are underrepresented in speed sports.

SNPs

There are many SNP with an influential association to physiological traits. In fact, aerobic capacity, ability to recover from an injury, muscle strength, or speed are the genetic factors that influence athletic performance. Regardless of the importance of the factors mentioned above, other essential SNPs may indirectly affect the elite status acquirement. The impact of an athlete’s genetic variation provides information on how these genes can influence lifestyle choices, such as recovery, dietary changes, or training. 

Injury and recovery SNPs: 

Some athletes are prone to injuries in comparison to their peers. On the other hand, some other athletes may recover quickly from an injury than other elite performers. In this particular case, the skeletal and muscle growth and the collagen structure crucial to “bounce back” from an injury.

• COL1A1 and COL5A1: The COL1A1 gene encodes for a protein chain in type 1 collagen, the major structural component of ligaments. Similarly, the COL5A1 gene with CC genotype variant is more common in females. The COL51 gene encodes for a protein chain in 5 type collagen, also found in tendons and ligaments. 

SNP variations in these genes correlate with anterior cruciate ligament injury (ACLI). Also, patients prone to developing ACLI are more likely to have a family history of ligamentous injury. This correlation is present in Caucasians in comparison to South African individuals. A study performed on Chinese males found that only the AA genotype increased the risk of developing ACLI. 

• The GDF5 is the gene code for the protein Growth differentiation factor 5 that influences the maintenance and growth of bones, muscle, and tendons. Studies show that those individuals who express a T allele produce less of this GDF5 protein. In turn, this reflects on a tendency to develop osteoarthritis.

In a study on 289 male soccer players, those subjects with the TT allele have significantly more ankle injuries than those with CT or CC genotypes. When looking for an association between genotype and knee injuries, those with the TT genotype had a higher tendency than the CT allele group.

Another finding in this study reports that those soccer players with the TT genotype played fewer matches than those with the CT and CC alleles.

As said earlier, having a specific genotype in these encoding genes may mean that we need more time to recover or even change our practice schedule. The introduction of injury prevention exercises and conditioning training might be excellent recommendations for injury-prone athletes. 

Some examples of these conditioning training to prevent injuries may include prehabilitative training, including:

• Yoga.
• Weight and resistance training.
• Pilates.
• Stretching.

How can we determine our genotype?

SNP detection has evolved from a time-consuming and expensive process to an efficient, automated system that allows patients or athletes to go through testing straightforwardly. New DNA reports, like dnalife tests, are easy to use, have a clear report sample, and provide guidance in areas needing improvement.

As SNP detection evolves, we can introduce it to perform a personalized treatment plan. In particular, determined patients, like athletes, need to go through a specific assessment to improve their performance. In this case, DNA testing for particular SNPs and applying the proper recommendations according to the genotype can impact the recovery and endurance of our patient. – Ana Paola Rodríguez Arciniega, MS

References:

Kwok, P. Y., & Chen, X. (2003). Detection of single nucleotide polymorphisms. Current issues in molecular biology, 5(2), 43–60.

Pickering, Craig, et al. “Can Genetic Testing Identify Talent for Sport?.” Genes vol. 10,12 972. 26 Nov. 2019, doi:10.3390/genes10120972

Zhao, Daohong et al. “Correlations Between the Genetic Variations in the COL1A1, COL5A1, COL12A1, and β-fibrinogen Genes and Anterior Cruciate Ligament Injury in Chinese Patients.” Journal of athletic training vol. 55,5 (2020): 515-521. doi:10.4085/1062-6050-335-18

McCabe, Kiah, and Christopher Collins. “Can Genetics Predict Sports Injury? The Association of the Genes GDF5, AMPD1, COL5A1, and IGF2 on Soccer Player Injury Occurrence.” Sports (Basel, Switzerland) vol. 6,1 21. 5 Mar. 2018, doi:10.3390/sports6010021

Additional Online Links & Resources (Available 24/7)

Online Appointments or Consultations: bit.ly/Book-Online-Appointment

 Online Physical Injury / Accident Intake Form: bit.ly/Fill-Out-Your-Online-History 

 Online Functional Medicine Assessment: bit.ly/functionmed

Disclaimer

The information herein is not intended to replace a one-on-one relationship with a qualified healthcare professional, licensed physician, and not medical advice. We encourage you to make your own health care decisions based on your research and partnership with a qualified health care professional. Our information scope is limited to chiropractic, musculoskeletal, physical medicines, wellness, sensitive health issues, functional medicine articles, topics, and discussions. We provide and present clinical collaboration with specialists from a wide array of disciplines. Each specialist is governed by their professional scope of practice and their jurisdiction of licensure.

We use functional health & wellness protocols to treat and support care for the musculoskeletal system’s injuries or disorders. Our videos, posts, topics, subjects, and insights cover clinical matters, issues, and issues that relate to and support, directly or indirectly, our clinical scope of practice.* Our office has made a reasonable attempt to provide supportive citations and has identified the relevant research study or studies supporting our posts. We provide copies of supporting research studies available to regulatory boards and the public upon request. We understand that we cover matters that require an additional explanation of how it may assist in a particular care plan or treatment protocol; therefore, to further discuss the subject matter above, please feel free to ask Dr. Alex Jimenez or contact us 915-850-0900. Read More.

Dr. Alex Jimenez DC, MSACP, CCST, IFMCP*, CIFM*, CTG*

email: coach@elpasofunctionalmedicine.com

phone: 915-850-0900

Licensed in Texas & New Mexico