Recent research has revealed a handful of ‘superheroes’ walking among us, whose DNA gifts them with resistance against serious diseases. Now, as Kat Amey observes, just have to find them…
Superheroes are everywhere right now. Righting wrongs, saving planets and generally punching each other senseless in films, comic books and TV shows. But just as Clark Kent wanders unrecognised through the world, only turning into Superman when his help is needed, there are genetic superheroes dwelling among us, and, in most cases, they’re completely unaware of their amazing powers. Only now, by trawling through the DNA of thousands of people, are we discovering their hidden identities.
Gaulty genes
Dr Cisca Wijmenga and her team at the University of Groningen in the Netherlands never set out to find superheroes. Their project was important but unexciting: reading the DNA of 250 Dutch families to establish a baseline for the genetic make-up of the country. Then, as future studies turned up interesting gene variations and faults (mutations) linked to disease, they would be able to tell if they were genuinely responsible for causing illness or just part of the underlying DNA of Dutchness.
Then they found them. Two unlikely heroes, both in their sixties and both carrying two faulty copies of a gene called SERPIN A1 (we usually have two copies of every gene, one from mum and the other from dad). This particular gene normally makes a protein that helps to protect the tubes and air sacs in the lungs. Without it, these delicate structures start to break down, causing serious breathing problems by 30 to 40 years of age. But these two individuals had both made it into their sixties without suffering from any severe lung problems.
And there was more. Wijmenga points to other examples in the data, such as the 177 people in her study who should by rights have a genetic disease called pseudoachondroplasia. The condition leads to unusually short stature and joint pains. But most of the individuals were just fine.
Denne historien er fra February 2017-utgaven av BBC Knowledge.
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Denne historien er fra February 2017-utgaven av BBC Knowledge.
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