Caffeine for Athletes

            Caffeine is a part of most people’s daily routine. A new study came out on the genetics of caffeine metabolism that proved that some athletes have a particular variant of one gene that shows improvements in their endurance performance after drinking caffeine. There are some athletes who show the opposite effect after drinking caffeine, they perform worse. Different people respond differently to caffeine which is a known side effect. Some people may get very antsy or have trouble sleeping 12 hours after a single cup of coffee, while others can increase their alertness and sleep just fine with the same cup. This range of reactions also occurs in athletes and effects their ability to perform. Some athletes were faster or stronger after a moderate dose of athletes while others performed the same, and others performed worse. 

A professor of nutritional science in Canada who studies how genes influence the body’s reaction to food and diet was interesting in this topic. By the time he was interested, other geneticists already discovered that one specific form of one gene affects how people digest and metabolize caffeine. There are different variants of this gene that give you different reactions: a quick metabolism of coffee making you hyper or jittering for a short period of time and then feeling regular shortly, a moderate metabolism that makes you just digest coffee regularly with a prolonged greater alertness and no crash, and a slow metabolism. The Canadian professor studied the effect on athletes specifically and found that they had the same reaction; he concluded that athletes should get a genetic testing to see what kind of caffeine metabolizer they are before blindly trying to increase their athletic abilities. 

https://www.nytimes.com/2018/03/21/well/move/can-coffee-rev-up-your-workout-it-may-depend-on-your-genes.html

https://www.ncbi.nlm.nih.gov/pubmed/29509641

Sudden Death

         A mutation of a gene known as CDH2, has been known to cause arrhythmogenic right ventricle cardiomyopathy (ARVC). ARVC is a genetic disorder that can predispose someone to early age cardiac arrest. This is one of a major causes for the unexpected death of healthy young people that show no signs of illness. ARVC is most seen in young healthy athletes. Athletes hearts experience overwhelming workload. Normally a healthy athletes heart would be able to hand the pressure; in the case of people with a mutation to gene CDH2 their hearts ultimately can not handle the pressure of rigorous activity and sudden cardiac arrest is experienced. The discovery of the link between the CDH2 gene and ARVC was uncovered by a South African team, researchers of the Italian Auxologico Institute of Milan and the university of Pavia. The discovery of this gene is important because discovery can lead to future genetic counseling for prevention and to inform people affected of precautionary measures. When this gene is inherited it will often cause sudden cardiac arrest and death in young adults under the age of 35. In patients with ARVC the hearts tissues are replaced with fatty and fibrous tissues this causes cardiac arrhythmia and ultimately can lead to sudden death within minutes. CDH2 produces a protein for adhesion between cardiac cells, when the mutation occurs this process dose not happen properly. As said by the researchers "identifying the gene is important because it helps to clarify the genetic mechanisms underlying ARVC, and it also makes the early detection of ARVC possible in otherwise unsuspecting people".
         This article is extremely important due to the fact is talks about the research of uncovering a gene that is known to cause sudden death in unsuspecting healthy people and young athletes. When showing no symptoms most people hardly ever go and get well check ups or physicals. All those seemingly healthy young people however might not be so healthy. With more research coming out about genes that might predispose us to serious conditions some do not even known about it will bring light to the importance of prevention of diseases and genetic counseling.Hopefully with prevention and genetic counseling we will bring awareness to serious conditions and save lives.

 For more information of sudden death in athletes visit; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC155532/.

   For original article about the discovery of mutant CDHV2 gene visit: https://www.sciencedaily.com/releases/2017/03/170309150637.htm

Genetics to Explain High-Functioning Senior Athletes with Hip Abnormalities

Genetics, cartilage type and other factors may be able to explain how senior athletes are high-functioning even though they have one or more hip abnormalities. These abnormalities are usually associated with osteoarthritis, dislocation of the hip (dysplasia), loose hip joint and femoroacetabular impingement (FAI) or abnormally shaped hip bones. Researchers evaluated 546 senior athletes (1,087 hips) about the age of 67 for signs of FAI. More than half had signs of FAI and they were most likely to have osteoathritis though 72% showed little to no sign of of OA. The study authors found that either genetics or the patient's type of cartilage plays a role in how well and preserved the hips of high functioning seniors athletes are. I find it incredible that even though they have these different hip abnormalities, they are still able to participate in so many different sports and highly active. From experience, hip problems are not fun at all and they can keep you from running or moving but they keep going and that is amazing to learn.

Virus Used as a Possible Cure/Enhancement

[caption id="attachment_3669" align="alignleft" width="800" caption="athlete(not related to experiment)"][/caption]

According to the website New Scientist, Lee Sweeney (University of Pennsylvania) has altered and intentionally injected a virus into rats .  Sweeney was attempting to create a virus which would transport a gene named IGF-I.  The gene is responsible for stimulating growth hormone, which triggers muscle growth.  The rats hind leg muscles rapidly grew in size.  Some of the rats were put on an intense exercise routine.  In very little time the rats that had exercised intensely showed a 15-30% increase in strength.  Sweeney also had a group of rats that were injected but did not follow an exercise routine, these rats still showed 15-20% increase in leg strength.  The purpose of Sweeney's experiment was to discover a cure for muscular dystrophy.  Although the results seem promising, the genetic alterations are not ready to be used on humans.  To Sweeney's surprise half of the emails he received in reference to the experiment were from patients, the other half was from athletes.  Unlike any other illegal enhancement drug, these injections would not show up in blood or urine.  Although athletes may be able to get away with the injections without being caught there could be horrific side effects.  Similar gene therapies in Europe for sickly patients have caused cases of leukemia.  Sweeney also explains modifying the IGF-I for the sole purpose of athletic enhancement could actually cause muscles to become too big and actually destroy bones.  Although this discovery is a big step towards a cure for muscular dystrophy, it is still in the beginning stages and further research needs to carried out.  As far as athletic use, in my opinion it is too risky and the  risks outweigh the benefits.