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