Gene mutation = no fat under the skin

Dec 7, 2010
Borrowed this from the "Caption this" thread...
Izzy eviel said:

(story here: it's quite interesting:
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.
Mar 18, 2009
He's a really interesting guy - but point taken about gene mutation. Diabetes too though, is it worth it (don't bother to answer ;))
Gene Doping

Experts predict gene doping is next temptation for athletes

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.
Aug 20, 2013
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.