Tuesday, 20 March 2012

The ACE Gene - 12 Years On

Xavier Jovellanos (42941877)
The “ACE” gene is a human gene known for coding the protein “Angiotensin-converting enzyme” located in muscle tissue and has been known to associate with increased athletic performance.  A review article conducted by Puthucheary et al. (2011) discusses the effects of the ACE gene on enhanced human physical performance.

Firstly, it is important to note that the ACE gene contains two different alleles: the “deletion allele” (D) and the “insertion allele” (I).  Williams et al. (2000) reported on the online science journal “Nature” that the “longer allele (the insertion allele) gives rise to lower enzyme activity and is associated with enhanced endurance performance and anabolic response to intense exercise training.”  Puthucheary et al. (2011) adds that the deletion allele is found to be in excess to a majority of elite swimmers due to its association with strength and power-orientated performance.  From a series of case study experiments on the ACE gene and its relation to human physical performance, Puthucheary et al. (2011) discovered that the presence of both the D and I alleles within populations indicate that both offer different advantages. 

For example, a study founded by Puthucheary et al. (2011) on their article “The ACE Gene and Human Performance – 12 Years On” was conducted where 91 British Olympic runners had an increase in I allele frequency with competitive distance.  The results were as follows: 0.35 I allele frequency for 200m or less; 0.53 for 400-3000m; and 0.62 for 500m or greater.  These results emphasize that higher levels of the insertion allele may be generated for more endurance-based sports, such as a 500m sprint or greater.  What this implies is that the insertion allele allows one to perform better in a high endurance sport, thus confirming that the I allele does indeed give rise to enhanced endurance performance.

(Repeating Islands - 

Going back to what was previously stated by Puthucheary et al. (2011) about the high presence of the deletion allele in a majority of elite swimmers, a study regarding 35 swimmers was conducted and the results indicated that difference in frequencies differed.  For instance, those swimmers classified as being better at shorter distance events had genotype frequencies as shown: 6% I/I vs 47% I/D vs 47% D/D.  Those who were better at longer distance swimming events had genotype frequencies as: 18.8% I/I vs 85% I/D vs 6.2% D/D.  

(Physio Works - http://physioworks.com.au/images/Injuries-Conditions/swimmers_shoulder.jpg)
What these results show is that for the more strength based events (shorter distance), there appears to be a higher frequency of the deletion allele as opposed to the insertion allele, which in turn allows one to perform better under these conditions.  More tests and their association with the ACE gene can be summarised below:

(Puthucheary et al. 2011)

What these results generally suggest is that while practice and training does indeed allow an individual to perform better at their selected sport, successful individual athletes appear to have increase in ACE genotype frequencies suited to either power, D/D genotype, or endurance, I/I genotype, depending on sport requirements and demands.  In having an increase in select ACE genotype frequencies, this allows an athlete to perform better under certain conditions, thus, giving an individual heightened athletic performance.  However the ACE gene is not the sole reason for athletic success.  As like all things genetics, there are many genes and factors that may influence sporting success, with the ACE gene being only one of many.

Puthucheary, Z, Skipworth, J R A, Rawal, J, Loosemore, M, Van Someren, K, Montgomery, H E 2011, “The ACE Gene and Human Performance – 12 Years On”, Sports Med.

Williams, A G, Rayson, M P, Jubb, M, World, M, Woods, D R, Hayward, M, Martin, J, Humphries, S E, Montgomery, H E 2000, “The ACE gene and muscle performance”, Nature: International Weekly Journal of Science, viewed 19 March, 2012, .

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