Gene mutation = no fat under the skin

[Granville57]

Borrowed this from the "Caption this" thread...

(story here: it's quite interesting: http://www.bbc.co.uk/news/health-22903537

Very interesting indeed, especially with the specter of "gene doping" lingering on the horizon. His is obviously a "naturally" occurring condition (with some obvious disadvantages) but it does point to some intriguing science.

Baffled doctors are nothing new to 23-year-old budding Paralympic cyclist Tom Staniford, from Exeter.

Staniford's condition had never been identified - until recently, when a research team set about mapping and analysing his DNA to pinpoint the precise gene mutation responsible.

Finally, Staniford has discovered he is one of just eight people in the world with MDP syndrome.

"I have just 40% of the muscles of an average male. I struggle to metabolise sugar and carbohydrates efficiently due to the diabetes - and I struggle to recover due to lack of immediate fuel sources, low testosterone etc.

"My muscles have a very narrow margin of efficiency and they're also tight, stiff and inflexible because I don't have fat to perform that role.

The research team, which included scientists from the University of Cambridge, and from India, Italy and the US, found an abnormality in the POLD1 gene on chromosome 19. They found that a single amino acid was missing from an enzyme that is crucial to DNA replication.

 

[the sceptic]

Finally, Staniford has discovered he is one of just eight people in the world with MDP syndrome.

Im guessing the rest are riding for team sky

 

[Microchip]

Im guessing the rest are riding for team sky

lol …
lol
lol

 

[bianchigirl]

He's a really interesting guy - but point taken about gene mutation. Diabetes too though, is it worth it (don't bother to answer )

 

[Moose McKnuckles]

Im guessing the rest are riding for team sky

lmao!

 

[ElChingon]

Poor man's version would be a liposuction all over. No test or penalty for that.

 

[Zweistein]

Im guessing the rest are riding for team sky

Beat me to it, lol.

 

[alitogata]

Im guessing the rest are riding for team sky

ha ha ha ha

 

[LaFlorecita]

Im guessing the rest are riding for team sky

That was my first thought as well when I read this

 

[spalco]

I read this too and was intrigued, but this man's mutation clearly is not a performance enhancer, but a very serious medical condition.

 

[Cycle Chic]

Gene Doping

Experts predict gene doping is next temptation for athletes

http://seattletimes.com/html/sports/2002548919_boost09.html

The article is from October 2005.

The most common technique for introducing new genes is using harmless viruses.

.. is so simple and widespread that a trained college biology student could perform gene transfers. Or an athletic trainer....Endurance athletes have long injected themselves with EPO, but what if scientists could locate the gene encoded for EPO production? What if they could turn that gene on and off?
"You would eliminate the need for individuals to inject themselves at all," says Dr. Gary Wadler, the leading expert in the field and a consultant to the World Anti-Doping Agency. "It would make using EPO a lot easier and harder to detect."...

Interesting reading.

 

[panyagua]

Wouldn't really be surprised to find down the road that it's already occurred. RNA-based approaches based on induced pluripotent stem cell techniques, perhaps. Probably no need for viral vectors.

 

[Linkinito]

Im guessing the rest are riding for team sky

You definitely made my day.