A single genetic mutation is the cause of a champion paracyclist's rare condition that keeps him from being able to store fat under his skin.
The findings, detailed in the journal Nature Genetics, shows what exactly is the cause of British man Tom Staniford's condition, known as MDP Syndrome: On Staniford's chromosome 19, there is an abnormality on the POLD1 gene. Researchers from the University of Exeter Medical School explained that only around eight people in the world have the condition; before, experts had thought Staniford might have progeria, a premature aging disorder.
"Tom's condition has been a puzzle to us for many years. We could see the symptoms, including the very unusual case of Type 2 diabetes in someone with no obvious body fat, but did not know what was causing them," Andrew Hattersley, a Wellcome Trust Senior Investigator at the University of Exeter Medical School who has worked with Staniford with regard to his condition, said in a statement.
"We had to look at 30 million base pairs in Tom's DNA, and similar numbers in his family members and the other patients, to identify the single mutation. This would not have been feasible even a couple of years ago, but new sequencing technology makes it possible for even patients with a rare genetic disorder to receive a diagnosis," Hattersley added in the statement.
Staniford has Type 2 diabetes and hearing loss (he now wears hearing aides), and he also experiences sore feet and has an increased risk of bone fractures. Researchers reported that he was born at a normal weight, but has lost fat from his limbs and face throughout childhood and adolescence; his body "thinks" he is obese, even though he isn't.
Staniford explained that it's especially important for him to have his condition properly classified because it would likely influence his ability to participate in the 2016 Paralympics.
"In some ways, identifying the syndrome behind my symptoms shouldn't be important -- a name is just a name, after all -- but it is reassuring to know that there are other people with the condition and that we can lead relatively normal lives," Staniford said in a statement. "What could prove crucial, though, is enabling me to be properly classified in competitions so that I am not competing at an unfair disadvantage against others. I hope to be able to compete for Great Britain in the 2016 Paralympics and this finding could make a real difference to my chances."