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Hereditary DNA defect mistaken for EPO doping

Mar 13, 2009
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I saw this on TV this morning while having breakfast and thought it sounded interesting. It is an extract from the TV show "Télématin" on France 2. Here is the link, but I am not sure if it is geo-restricted, and it is in French:

http://telematin.france2.fr/?page=chronique&id_article=36505

I will try to transcribe most of it.


What do a professional athlete accused of EPO usage and a haemocromatosis patient in common? The answer: elevated iron levels in their blood. This researcher has proven that certain athletes wrongly accused of doping have in reality a rare genetic mutation that gives them superior physical capacity.

Pr. Gerard DINE: "We have discovered that these athletes, unjustly accused of doping, had a rare genetic mutation that impacts the metabolizing of iron. By doing sports they elevate their red blood cells, when they go to high altitudes they respond fantastically to those conditions and therefore find themselves with highly suspicious blood values, indicating EPO usage. Except they didn't take it because they didn't need it. Among the European population there are around 5% - 10% of people with this mutation, among professional athletes the percentage is three times higher. This has an important biological signification.

Among the athletes, this can give them an advantage. But among patients, some of these mutations can lead to an iron overload, causing a disease called heretic haemochromatosis. There is a fine balance between having enough iron, and being at an advantage, and having too much, and being at a disadvantage."

In order to avoid these false accusations, the Institute of Sports Medicine of Troyes has developed a sports passport, adopted today by many federations. However, sometimes Pr. DINE has had to testify in favour of athletes like runner Bob Tahri or cross-country skier Jean-Marc Gaillard.

"During the winter games of 2006, we succeeded in getting a suspended cross-country skier back into the games. He had been suspended unjustly by the IOC at the beginning of the games, because they had not studied his file."

Have you discovered superman?

"No. You cannot discover superman. (...) There is no champion-gene, that would be too simple and this is too complex".

Today Pr. Dine and his team are doing research on the Maori. These populations are particularly sensitive to diabetis, but they are also over-represented in international rugby. It seems this weakness and this strength could have the same cause; maybe a genetic mutation.




Is this something new? I don't follow doping news as closely. The video states it is a new discovery, but at the same time they say they already used this to defend athletes back in 2006.

Does it have any effect to cycling? In the beginning they speak of Contador but he wasn't suspended for EPO. Has the UCI adopted this passport?
 
Oct 30, 2011
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Christian said:
I saw this on TV this morning while having breakfast and thought it sounded interesting. It is an extract from the TV show "Télématin" on France 2. Here is the link, but I am not sure if it is geo-restricted, and it is in French:

http://telematin.france2.fr/?page=chronique&id_article=36505

I will try to transcribe most of it.


What do a professional athlete accused of EPO usage and a haemocromatosis patient in common? The answer: elevated iron levels in their blood. This researcher has proven that certain athletes wrongly accused of doping have in reality a rare genetic mutation that gives them superior physical capacity.

Pr. Gerard DINE: "We have discovered that these athletes, unjustly accused of doping, had a rare genetic mutation that impacts the metabolizing of iron. By doing sports they elevate their red blood cells, when they go to high altitudes they respond fantastically to those conditions and therefore find themselves with highly suspicious blood values, indicating EPO usage. Except they didn't take it because they didn't need it. Among the European population there are around 5% - 10% of people with this mutation, among professional athletes the percentage is three times higher. This has an important biological signification.

Among the athletes, this can give them an advantage. But among patients, some of these mutations can lead to an iron overload, causing a disease called heretic haemochromatosis. There is a fine balance between having enough iron, and being at an advantage, and having too much, and being at a disadvantage."

In order to avoid these false accusations, the Institute of Sports Medicine of Troyes has developed a sports passport, adopted today by many federations. However, sometimes Pr. DINE has had to testify in favour of athletes like runner Bob Tahri or cross-country skier Jean-Marc Gaillard.

"During the winter games of 2006, we succeeded in getting a suspended cross-country skier back into the games. He had been suspended unjustly by the IOC at the beginning of the games, because they had not studied his file."

Have you discovered superman?

"No. You cannot discover superman. (...) There is no champion-gene, that would be too simple and this is too complex".

Today Pr. Dine and his team are doing research on the Maori. These populations are particularly sensitive to diabetis, but they are also over-represented in international rugby. It seems this weakness and this strength could have the same cause; maybe a genetic mutation.




Is this something new? I don't follow doping news as closely. The video states it is a new discovery, but at the same time they say they already used this to defend athletes back in 2006.

Does it have any effect to cycling? In the beginning they speak of Contador but he wasn't suspended for EPO. Has the UCI adopted this passport?

Contador was suspended for having small quantities of clunbuterol in his bloodstream. Clenbuterol is a drug that causes fat tissue to be burnt away (as I understand it), and does not occur naturally in humans, so it is a drug with no tolerance level. EPO does occur naturally, but most of the EPO used for doping has been r-EPO, recombinant EPO, which differs slightly from the EPO we generate ourselves. Around 2007-09 it was CERA that was the variant used.

As I understand it, the tests for doping with EPO test for the actual substance, and not iron levels. There was also a drive involving testing the haematocrit level, which is essentially how thick the blood is. EPO raises the haematocrit, and the thicker blood can transport oxygen. If the level exceeded 50%, the rider had to serve a very short suspension (effectively removing them from their current competition, but not a long-term punishment, and there was no explicit accusation of doping associated). Possibly the haematocrit is what is meant by the increased iron levels.

Would be interesting if it were true. Wonder whether it might have had anything to do with Pantani's case. I admit to being a fan of his, and I know he doped. On his '99 expulsion from the Giro, the judge upheld it, and one of the reasons given was Pantani's possession of a centrifuge for measuring the haematocrit. I had thought that it was pretty damning evidence, but possibly his blood came close to that anyway. I think that's probably just what I want to believe though.

The UCI does use a blood passport program, which measure blood values over the long term. However, if blood values shoot up when at altitude, that would come out as suspicious, rather than consistent, on the passport, I think.
 
Oct 30, 2011
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Sadly for you, this has pretty much nothing to do with Alberto, unless he's had an EPO positive.
 
Mar 13, 2009
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LaFlorecita said:
I just want to know what they say about him.

It's really not related to him, I think they just mentioned his name to get people's attention ... it's more or less:

"You might remember the cyclist Contador, sanctioned with a 2 year ban for a positive anti-doping test. Our reporter went to a facility in Troyes which specializes in the fight against doping, and where they are doing research on athletes' DNA"

Then they open with some images from the Tour but cycling doesn't actually come up at all during the report
 
Caruut said:
The UCI does use a blood passport program, which measure blood values over the long term. However, if blood values shoot up when at altitude, that would come out as suspicious, rather than consistent, on the passport, I think.

As long as the UCI controls the anti-doping process, nothing good will come from this story.

The passport program is an elaborate scheme to protect the UCI's reputation and permit doping such that it does not kill a rider. While it looks good, just understand that it isn't an anti-doping program.

Blood testing coupled with the whereabouts system, the bio-passport committee can control for changes due to elevation. That's assuming the WADA certified lab is good at performing the tests. There is research that makes it clear that EPO testing performance not only wildly varies by labs, it generates an enormous number of false negatives. That's before results disappear into the UCI.

To answer the OP's question directly.
-The anti-doping process all the way down to race level is secret. That is by design. There are LOTS of documented rules around collecting. After that, the process is a black box. There is no rhyme or reason to the UCI's anti-doping processing. Compare Contador and Li FuYu's outcomes sometime.
 
Christian said:
It's really not related to him, I think they just mentioned his name to get people's attention ... it's more or less:

"You might remember the cyclist Contador, sanctioned with a 2 year ban for a positive anti-doping test. Our reporter went to a facility in Troyes which specializes in the fight against doping, and where they are doing research on athletes' DNA"

Then they open with some images from the Tour but cycling doesn't actually come up at all during the report

That does sound a lot like attracting attention.

At least it worked on me.
 
Christian said:
I saw this on TV this morning while having breakfast and thought it sounded interesting. It is an extract from the TV show "Télématin" on France 2. Here is the link, but I am not sure if it is geo-restricted, and it is in French:

http://telematin.france2.fr/?page=chronique&id_article=36505

I will try to transcribe most of it.

[/I]


Is this something new? I don't follow doping news as closely. The video states it is a new discovery, but at the same time they say they already used this to defend athletes back in 2006.

Does it have any effect to cycling? In the beginning they speak of Contador but he wasn't suspended for EPO. Has the UCI adopted this passport?

From reading this article published in august 2011 in "LE FIGARO"

http://sante.lefigaro.fr/actualite/2011/08/30/16268-ces-sportifs-naturellement-dopes-par-leurs-genes

It seems that after studying the 2006 case of Gaillard they got the idea that (many?) others had the same condition and launched the study that we are talking about.

In fact, those guys benefit from a high Hct but would be in very great danger if they used EPO!

This does not seem to be related to the case of that nordic olympic skier who had a different hemoglobin type.
Babies and ... geese, also have a different hemoglobin than we have as adults.

PS about geese
http://www.pnas.org/content/88/15/6519.full.pdf

PS2 about Mantyranta
http://en.wikipedia.org/wiki/Eero_Mäntyranta

PS3 I just looked at the TV report mentioned in the beginning,
the news concerning CONTADOR is not related to the DNA mutation talked about here.