Which athlete are you? This was the question Amsterdam based Ascot Genetics posed when they sent me a complimentary DNA kit to review in late February, before the coronavirus lockdown in the UK.
The discovery in 1953 of the double helix, the twisted-ladder structure of deoxyribonucleic acid (DNA), by James Watson and Francis Crick marked a milestone in the history of science and heralded the age of modern molecular biology. Since then, DNA has played an integral role in the development of medical science, forensic research and more recently in sports.
GENETIC ANALYSIS IN SPORT
Since the turn of the millennium, research has predominantly focused on attempting to understand the genetic influence on athletic performance. This has led to the identification of a number of candidate genes which may help differentiate between elite and non-elite athletes. One of the most promising genes in that regard is ACTN3. Discovered in 1996 and quickly dubbed “a gene for speed”.
Recent research has examined the influence of this gene on other performance phenotypes, including exercise adaptation, exercise recovery, and sporting injury risk. This suggests that ACTN3 is more than just a gene for speed, with potentially wide-ranging influence on muscle function. This knowledge may be hugely beneficial to sports coaches when developing training schedules for individual athletes.
The ACTN3 gene codes for the protein alpha-actinin-3 and influences the fibre type that makes up the skeletal muscles. There are two types of muscle fibres, slow twitch and fast twitch. Slow twitch fibres are more efficient in using oxygen to generate energy. While this favours endurance activities, the trade off is that the muscle cannot generate the rapid contractions needed to excel in sprinting. Fast twitch fibres generate more rapidly power compared to slow twitch fibres.
PROVIDING A SAMPLE
Providing a sample for Ascot Genetics was a very simple process. Just a gentle rub inside the cheeks of my mouth and I had completed the swab test. The team at Ascot Genetics kindly arranged for a courier to collect my sample and it was on its way from the UK to their lab in Amsterdam.
WHAT’S IN A GENE?
The ACTN3 gene is located on chromosome 11 from which one copy is inherited from each parent. There are two variants of the gene “R” and “X”. When the same copy is inherited from both parents an individual is called homozygous. In contrast, when both variants or alleles are inherited an individual is called heterozygous.
Individuals who are homozygous for the wild type (RR) or heterozygous (Rx) for the two alleles, make the ACTN3 protein and have fast twitch fibres. These genotypes are associated with sprint and power lifting performance. A variant of the ACTN3 gene called R577X results in a deficiency of alpha-actinin 3. Individuals who are homozygous for mutant (XX) do not produce the ACTN3 protein and have slow twitch fibres. Individuals with this genotype are associated with endurance performance such as long distance running. It appears that the XX genotype is associated with higher levels of exercise-induced muscle damage and a longer time required for recovery. [1]
FAST OR SLOW?
It was just a few weeks after sending my sample back to Ascot Genetics that I received an email saying my results were in the customer portal. I was about to find out “which kind of athlete are u?”
Genetic analysis: Your DNA was extracted from the provided sample this was followed by the isolation of the ACTN3 Gene. To determine your Genotype, High Resolution Melt (HRM) analysis was used. HRM is a powerful technique in molecular biology for the detection of Gene variants. The method makes use of the fact that the DNA location of different Gene variants melt at different temperatures. By adding a fluorophore which enlightens when the DNA melts the Gene variant can be found by linking the fluorescent signal and corresponding temperature.
Ascot Genetics
Figure 3. ACTN3 analysis using melt curve analysis. The melt curve of Wild Type standard of ACTN3 is shown in red and Mutant standard is shown in black. Samples 1 and 2 (green & orange) show curves like that of the Heterozygous Genotype, showing 2 peaks. Results: Your Gene variant is Heterozygous for wild type (Rx) and you have fast twitch muscle fibers. These fibers are made for explosive motions and have fast exercise recovery time. Based on your muscle fiber type you have most potential in explosive sports like power lifting and sprint. For the best advice always consult a professional sports coach and food specialist to get your fastest results.
ASCOT GeneTICS
SO HOW ACCURATE WERE THE RESULTS?
The Genetic analysis by Ascot Genetics suggested I have potential in explosive sports like power lifting and sprint. So were the results accurate?
The answer is absolutely Yes! Although these days I lead a relatively sedentary life in my early 50s, during the 1990s I ran sprints on the athletics track. So in short, I was very satisfied with the analysis which correctly identified that I have fast twitch fibres.
Ascot Genetics also provided me with the raw data for the sports test.
ORIGIN OF MY Patriline
DNA forms the building blocks of our Genes, which are divided as chapters over 46 books. These books are known as Chromosomes, from which 23 are inherited from each parent. There is one special book amongst them which is passed on from father to son. The name of this book is the Y- Chromosome and it tells the story of your paternal origin.
Ascot Genetics also provided Patrilineal analysis for their Y23 Marker test and correctly predicted my Haplogroup to be R1b-M269.
Genetic analysis
ascot Genetics
By isolating DNA from your provided sample, 23 specific Y-Chromosome Markers were analyzed. These Markers have different lengths within different ethnic groups, also called Haplogroups. By comparing your Y-Chromosome Markers with a database of known Haplotypes the hidden story in your DNA was unfolded.
Result: In the search for your male ancestor, we travelled back in time 5000 years and found one single man. In the scientific literature he is know as R1B-M269. His lineage is carried by an estimated 110 million males in Europe. R1B-M269 came from the Yamnaya culture, these were nomadic herders from the steppe north of the black sea. The migration of these people did not only spread their Genes, your ancestors also introduced the Indo-European language across Eurasia and were responsible for the domestication of the horse. The Yamnaya culture had a profound impact on the modern world. [2], [3]
ascot Genetics
Images courtesy of Ascot Genetics. No fee was received for this review.
[1] Craig Pickering et al. ACTN3: More than Just a Gene for Speed. Frontiers Physiology. 8: 1080 (2017) [2] W.Haak et al. Massive migration from the steppe was a source for Indo-European languages in Europe. Nature. doi: 10.1038 (2015)
[3] J. Moisan et al. A Predominantly Neolithic Origin for European Paternal Lineages. PLOS Biology. 8 (1): e1000285. doi:10.1371/journal.pbio.1000285 (2010)