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Leap into Science Blogging

Leap into Science Blogging

Today, I produced an event connected to the European City of Science, which brought together some fantastic experts in science blogging. We had Stephen Harris from The Conversation, Sam Illingworth from Manchester Metropolitan University, and Laura Wheelers from Digital Science. 

It was great to assemble this community and work towards producing work around ESOF and ECOS.

Unique among unique. Is it genetically determined? (2008, Jul 28)

Unique among unique. Is it genetically determined? [Br J Sports Med. 2008] - PubMed Result <> Br J Sports Med. 2008 Jul 28. [Epub ahead of print]

Unique among unique. Is it genetically determined? Gonzalez-Freire M <> , Santiago C <> , Verde Z <> , Lao JI <> , Oiivan J <> , Gómez-Gallego F <> , Lucia A <> .

Universidad Europea de Madrid, Spain.

The cross-country World championship is one of the best models to study characteristics needed to achieve top-level endurance athletic capacity. We report the genotype combination of a recent cross-country champion (12km race) in polymorphisms of seven genes that are candidates to influence endurance phenotype traits (ACTN3, ACE, PPARGC1A, AMPD1, CKMM, GDF8 (myostatin) and HFE). His data were compared with those of eight other runners (World class but not World champions). The only athlete with the theoretically more suited genotype for attaining World-class endurance running performance was the case study subject. A favourable genetic endowment, together with exceptional environmental factors (years of altitude living and training in this case) seems to be necessary to attain the highest possible level of running endurance performance.

Keeping Pace with ACE: Are ACE Inhibitors and Angiotensin II Type 1 Receptor Antagonists Potential Doping Agents? (2008, Dec 1)

Version:1.0 StartHTML:0000000149 EndHTML:0000000489 StartFragment:0000000199 EndFragment:0000000455 StartSelection:0000000199 EndSelection:0000000455 Keeping Pace with ACE: Are ACE Inhibitors and Angiotensin II Type 1 Receptor Antagonists Potential Doping Agents? Keeping Pace with ACE: Are ACE Inhibitors and Angi...[Sports Med. 2008] - PubMed Result <> Sports Med. 2008;38(12):1065-79. doi: 10.2165/00007256-200838120-00008. Related Articles <> , Links

Keeping Pace with ACE: Are ACE Inhibitors and Angiotensin II Type 1 Receptor Antagonists Potential Doping Agents? Wang P <> , Fedoruk MN <> , Rupert JL <> .

School of Human Kinetics, University of British Columbia, Vancouver, British Columbia, Canada.

In the decade since the angiotensin-converting enzyme (ACE) gene was first proposed to be a 'human gene for physical performance', there have been numerous studies examining the effects of ACE genotype on physical performance phenotypes such as aerobic capacity, muscle function, trainability, and athletic status. While the results are variable and sometimes inconsistent, and corroborating phenotypic data limited, carriers of the ACE 'insertion' allele (the presence of an alu repeat element in intron 16 of the gene) have been reported to have higher maximum oxygen uptake (V (2max)), greater response to training, and increased muscle efficiency when compared with individuals carrying the 'deletion' allele (absence of the alu repeat). Furthermore, the insertion allele has been reported to be over-represented in elite athletes from a variety of populations representing a number of endurance sports. The mechanism by which the ACE insertion genotype could potentiate physical performance is unknown. The presence of the ACE insertion allele has been associated with lower ACE activity (ACE(plasma)) in number of studies, suggesting that individuals with an innate tendency to have lower ACE levels respond better to training and are at an advantage in endurance sporting events. This could be due to lower levels of angiotensin II (the vasoconstrictor converted to active form by ACE), higher levels of bradykinin (a vasodilator degraded by ACE) or some combination of the two phenotypes. Observations that individuals carrying the ACE insertion allele (and presumably lower ACE(plasma)) have an enhanced response to training or are over-represented amongst elite athletes raises the intriguing question: would individuals with artificially lowered ACE(plasma) have similar training or performance potential? As there are a number of drugs (i.e. ACE inhibitors and angiotensin II type 1 receptor antagonists [angiotensin receptor blockers - ARBs]) that have the ability to either reduce ACE(plasma) activity or block the action of angiotensin II, the question is relevant to the study of ergogenic agents and to the efforts to rid sports of 'doping'. This article discusses the possibility that ACE inhibitors and ARBs, by virtue of their effects on ACE or angiotensin II function, respectively, have performance-enhancing capabilities; it also reviews the data on the effects of these medications on V (2max), muscle composition and endurance capacity in patient and non-patient populations. We conclude that, while the direct evidence supporting the hypothesis that ACE-related medications are potential doping agents is not compelling, there are insufficient data on young, athletic populations to exclude the possibility, and there is ample, albeit indirect, support from genetic studies to suggest that they should be. Unfortunately, given the history of drug experimentation in athletes and the rapid appropriation of therapeutic agents into the doping arsenal, this indirect evidence, coupled with the availability of ACE-inhibiting and ACE-receptor blocking medications may be sufficiently tempting to unscrupulous competitors looking for a shortcut to the finish line.

the Genathlete study. (2007)

Endothelial nitric oxide synthase gene polymorphism and elite endurance athlete status: the Genathlete study.via PubMed: triathletes OR triat... by Wolfarth B, Rankinen T, Mühlbauer S, Ducke M, Rauramaa R, Boulay MR, Pérusse L, Bouchard C on 12/11/07

Endothelial nitric oxide synthase gene polymorphism and elite endurance athlete status: the Genathlete study.

Scand J Med Sci Sports. 2007 Dec 7;

Authors: Wolfarth B, Rankinen T, Mühlbauer S, Ducke M, Rauramaa R, Boulay MR, Pérusse L, Bouchard C

In the Genathlete study, we examined the contribution of three polymorphisms in the endothelial nitric oxide synthase (NOS3) gene to discriminate elite endurance athletes (EEA) from sedentary controls (SC). The EEA group included a total of 316 Caucasian males with a VO(2max) >75 mL/kg. The SC group comprised 299 unrelated sedentary Caucasian males who had VO(2max) values below 50 mL/kg. The polymerase chain reaction technique was used to amplify a microsatellite (CA)(n) repeat in intron 13, a 27 bp repeat in intron 4 and a third fragment in exon 7 containing the Glu298Asp SNP. No difference was found between the EEA and SC groups for the 27 bp repeat and the Glu298Asp polymorphism. Chi-square analysis of the overall allelic distribution of the (CA)(n) repeat revealed no significant difference between the two groups (P=0.135). However, comparing carriers and non-carriers for the most common (CA)(n) repeat alleles, we found significant differences between SC and EEA, with more EEA subjects carrying the 164 bp allele (P=0.007). In summary, we found suggestive evidence that the 164 bp allele of the (CA)(n) repeat in intron 13 is associated with EEA status and may account for some of the differences between EEA and SC.

PMID: 18067521 [PubMed - as supplied by publisher]

Gene Doping: A Review

Gene Doping: A Review of Performance-Enhancing Genetics

Gary R. Gaffney, MD, Robin Parisotto, BA

0031-3955/07/ 2007 Elsevier Inc. All rights reserved.


Pediatr Clin N Am 54 (2007) 807–822

“Mighty Mice” Made Mightier (2007, Aug 30)

“Mighty Mice” Made MightierImage Gallery

Se-Jin Lee Comparison of body and muscle size between normal mice (left) and double mutant mice lacking myostatin and overproducing follistatin (right)

Newswise — The Johns Hopkins scientist who first showed that the absence of the protein myostatin leads to oversized muscles in mice and men has now found a second protein, follistatin, whose overproduction in mice lacking myostatin doubles the muscle-building effect.

Results of the new study by Se-Jin Lee, M.D., Ph.D., appearing this Wednesday in PloS One, show that while mice that lack the gene that makes myostatin have roughly twice the amount of body muscle as normal, mice without myostatin that also overproduce follistatin have about four times as much muscle as normal mice.

Lee, a professor of molecular biology and genetics, says this added muscle increase could significantly boost research efforts to “beef up” livestock or promote muscle growth in patients with muscular dystrophy and other wasting diseases.

Specifically, Lee first discovered that follistatin was capable of blocking myostatin activity in muscle cells grown under lab conditions. When he gave it to normal mice, the rodents bulked up, just as would happen if the myostatin gene in these animals was turned off.

He then genetically engineered a mouse that both lacked myostatin and made extra follistatin. If follistatin was increasing muscle growth solely by blocking myostatin, then Lee surmised that follistatin would have no added effect in the absence of myostatin.

“To my surprise and delight, there was an additive effect,” said Lee, who notes that these muscular mice averaged a 117 percent increase in muscle fiber size and a 73 percent increase in total muscle fibers compared to normal mice.

“These findings show that the capacity for increasing muscle growth by targeting these pathways is much more extensive than we have appreciated,” adds Lee. “Now we’ll search for other players that cooperate with myostatin so we can tap the full potential for enhancing muscle growth for clinical applications.”

Lee adds that this issue is of particular significance, as most agents targeting this pathway, including one drug being currently tested in a muscular dystrophy clinical trial, have been designed to block only myostatin and not other related proteins.

The research was funded by grants from the NIH and the Muscular Dystrophy Association and by a gift from Merck Research Laboratories.

On the Web:

French scientists seek test to detect gene doping in athletes (2007, Aug 21)

South Florida Sun-Sentinel.comUF, French scientists seek test to detect gene doping in athletes Staff report

August 21, 2007

Gene doping has the potential to spawn athletes capable of out-running, out-jumping and out-cycling the strongest of champions. But research under way at the University of Florida could help level the playing field by detecting the first cases of gene doping in professional athletes before the practice enters the mainstream.

In the wake of recent Tour de France drug violations ˜ and with the 2008 Olympics looming ˜ the need to stay ahead of the game has never been more evident. That's why the Montreal-based World Anti-Doping Agency, or WADA, charged with monitoring the conduct of athletes, is working with investigators around the globe to develop a test that would bust competitors for injecting themselves with genetic material capable of enhancing muscle mass or heightening endurance.

"If an athlete injects himself in the muscle with DNA, would we be able to detect that?" asked one of France's leading gene therapy researchers, Philippe Moullier, M.D., Ph.D., an adjunct professor of microbiology and molecular genetics at UF and director of the Gene Therapy Laboratory at the Universite de Nantes in France.

Right now the answer is no, he said. But the UF scientists are among several groups collaborating with national and global anti-doping organizations to develop a test that could detect evidence of "doped" DNA.

"WADA has had a research program in place for some years now, to try to develop tests for gene-based doping," said Theodore Friedmann, M.D., head of the agency's panel on genetic doping and director of the gene therapy program at the University of California, San Diego.

It sounds futuristic, but experts say it's only a matter of time. Unscrupulous athletes began showing an interest in gene doping in 2004, when the first reports of muscle-boosting therapies in mice were published by University of Pennsylvania researchers.

Since then, several potential targets of gene doping have emerged, including the gene for erythropoietin, or EPO. A bioengineered version of the hormone, currently on the market, increases red blood cell production in patients with anemia and boosts oxygen delivery to the body. In athletes, this translates to enhanced stamina and a competitive edge.

But because synthetic hormones such as EPO are prohibited by WADA and readily detected through drug tests, performance-driven athletes have begun searching for stealthier and more powerful alternatives.

"The next variation of boosting red blood cell production is to actually inject the EPO gene itself, which would cause increases in red blood cells," said Richard Snyder, Ph.D., an assistant professor of microbiology and molecular genetics at UF and director of UF's Center of Excellence for Regenerative Health Biotechnology. "So the idea is to develop a test that could detect the gene that's administered."

The task isn't easy ˜ the researchers are faced with a myriad of uncertainties, such as which tissues in the body to sample and how to distinguish a "doped" gene from a naturally occurring form of the gene. Ultimately, the test will compare how many copies of the EPO gene are found in an athlete's body to levels found in the average person who has not been doping.

"Our research aims to develop the ability to detect gene doping, primarily in athletes. But it has a wider purpose, and that's to understand how gene therapies are disseminated throughout the body," added Snyder, whose research stemmed from a cooperative agreement between the UF Genetics Institute and two biomedical research organizations in France: INSERM, the French version of the National Institutes of Health, and the French national blood bank, Etablissement Francais du Sang Pays de Loire. The agreement allows Snyder and Moullier to pool their expertise and resources.

A major objective of the UF-French collaboration is to decipher the structure of AAV, a virus commonly used to deliver genes into the body for therapeutic purposes. Gene "doping" would enter the body through a similar route, but scientists say the two procedures are as different as night and day from a therapeutic standpoint.

Copyright © 2007, South Florida Sun-Sentinel <>