Picture credit: http://www.telegraph.co.uk/news/science/science-news/8078798/Formula-to-run-the-perfect-marathon.htm
This web page was produced as an assignment for Genetics 564, an undergraduate course at UW-Madison.
If you ask someone on the street what their idea of a good time is, very few would probably say running a marathon. While not a very enjoyable hobby for most, the few who strive to run these 26.2 miles train their body's to run as efficiently as possible. Training plays a large roll in the success of most runners, but some are born with the genes to help them truly excel. Studies have shown a single base mutation causes a variant in the COL5A1 gene that pushes the endurance of some marathon runners to that next level (1,2). This variant is the result of a single point mutation in the 3' UTR of the gene and is referred to as rs12722. This mutation actually leads to inflexibility, a trait that promotes long distance running.
Staying loose on a run: Not as good as you might think?
Next time you go on a long run, you might want to rethink doing your pre-workout stretch. Studies have shown that inflexible people actually make better runners as a result of the energy-efficient function of elastic components in muscles and tendons (3). These flexibility tests were done using a sit and reach box (diagrammed below), which tested the participants lower back and hamstring flexibility. The COL5A1 variant gene was found to be associated with inflexibility, and that inflexible marathon runners with the gene were faster than those more flexible runners.
Fig 1. Diagram of sit and reach test for measuring flexibility. Credit: http://www.virtualwebstudio.com/adult-web-hosting/adult-web-hosting-info0035.htm
How would this give me more endurance?
Collagen makes up collagen fibrils which in turn makes up tissue that connects muscle to the bone. This variant of the gene is speculated to code for more type V collagen that alters muscle-tendon interactions in a way that increases stiffness (4). This inflexibility in turn increases running economy.
What exactly does the COL5A1 gene do?
The gene product of COL5A1 codes for pro-alpha-1(V) chain. Three components of this contains the coding information to make a component of collagen, a protein responsible for strengthening and holding together different tissues such as ligaments, tendons, bones, and muscles. The component of this protein COL5A1 codes for is called the pro-alpha-1(V) chain, with three of these chains coming together to form a type V procollagen protein. These strands of procollagen are processed by enzymes outside the cell, where they then arrange themselves into long, thin fibrils that cross-link with other strands in the spaces around the cells. The end result are mature type V collagen fibers that provide a large amount of structure to the surrounding tissues. The figure below shows the general make up of a collagen fiber.
Fig 2. Collagen fiber formation. Diagram credit:http://www.proto-col.com/blog/wp-content/uploads/2014/07/COLLAGEN-DIAGRAM.jpg
What is the prevalence in different ethnic backgrounds?
Using a HapMap, one can see the percentage of people of an ethnic background that have a certain common genetic mutation. Each bar represents a different ethnicity. For example, CEU represents those of European descent, HCB represents those of Chinese descent, and YRI represents those of Yoruba African descent. The project is still being worked on so samples sizes are always increasing are added Below is the HapMap of rs12722.
The blue bar represents the portion of the sample size that is homozygous for the rs12722 variant. The green bar represents the portion of the sample size that is heterozygous for the normal COL5A1 and the rs12722. The brown bar represents the portion of the population that is homozygous the normal COL5A1. As one can see, those who are homozygous for rs12722 are in the minority on average (indicated as AVG).
References
- Posthumus M, Schwellnus MP, Collins M. (2011) The COL5A1 gene: a novel marker of endurance running performance. Med Sci Sports Exerc. 2011 Apr;43(4):584-9. doi: 10.1249/MSS.0b013e3181f34f4d
- Bell RD, Shultz SJ, Wideman L, Heinrich VC (2012). Collagen gene variants associated with anterior cruciate ligament injury risk are also associated with joint laxity Sports Health, 4, 312-318 DOI:10.1177/1941738112446684
- Trehearn TL1, Buresh RJ. (2009) Sit-and-reach flexibility and running economy of men and women collegiate distance runners. J Strength Cond Res. 2009 Jan;23(1):158-62. doi: 10.1519/JSC.0b013e31818eaf49
- Brown JC, Miller CJ, Posthumus M. et al. (2011) The COL5A1 gene, ultra-marathon running performance, and range of motion. Int J Sports Physiol Perform. 2011 Dec;6(4):485-96. Epub 2011 Jul 29.
- Bertuzzi R, Pasqua LA, Bueno S, Lima-Silva AE, Matsuda M, et al. (2014) Is the COL5A1 rs12722 Gene Polymorphism Associated with Running Economy? PLoS ONE 9(9): e106581. doi:10.1371/journal.pone.0106581
- O' Connell K, Saunders CJ, Collins M. (2013) Collagen gene sequence variants in exercise-related traits. Central European Journal of Sports Sciences and Medicine. Vol.1, No. 1/2013:3-17
- Abraham S, Posthumus M, Collins M. (2013) A polymorphism in a functional region of the COL5A1 gene: association with ultraendurance-running performance and joint range of motion. Int J Sports Physiol Perform. 2014 May;9(3):583-90. doi: 10.1123/ijspp.2013-0222. Epub 2013 Sep 30.
Website Author: Logan Silber
Contact email: [email protected]
Page last updated: 5/15/2015
Course Homepage: www.genetics564.weebly.com
Contact email: [email protected]
Page last updated: 5/15/2015
Course Homepage: www.genetics564.weebly.com