Uncanny mutation may hold key to humanity’s resistance to viral infection
Two incredibly rare cases of a unique genetic disorder – so unique, in fact, that these are only the second and third cases ever described – were recently revealed in the New England Journal of Medicine. An 11-year-old boy and his 6-year-old sister showed an enhanced resistance against viruses, rendering them virtually immune to viralinfections.
However, their viral immunity does not come without cost.
A bittersweet victory
As a consequence of their genetic condition, the siblings have fallen prey to developmental delays, hearing loss, seizures, fragile bones and, in a rather sad twist of irony, a weakened immune system. The first recorded case of this mutation was an infant who died after 74 days.
The siblings’ health woes are a result of the mutation hindering glycosylation in their bodies. Glycosylation is a biological process wherein sugar molecules attach themselves to proteins, resulting in sugar-protein combinations. Because viruses are incomplete organisms, they need to hijack these sugar-proteins and turn them into protective shells in order to facilitate their development and strengthen their hold on the body.
“They are teaching us that we can manipulate the immune system,” according to Dr. Sergio Rosenzweig, an immune deficiency expert from the National Institute of Allergy and Infectious Diseases at NIH, in an interview with NBC News. “We can use the lessons used from these patients to apply to the general population to learn how to modulate the immune system.”
As a result of the mutation, viruses end up attaching themselves to “faulty” cells – ineffective and useless for the viruses’ purposes. This sends the development of glycosylation-dependent viruses (such as herpes, dengue, influenza, HIV, and hepatitis-C) to a screeching halt.
This immunity doesn’t cover all viral diseases, though; cold viruses, for example, don’t utilize sugar-protein shells, and are thus unaffected by this condition.
Replicating the effect
The siblings’ mysterious genetic condition sheds new light on the development of new drugs that could stop viruses cold in their tracks. Dr. Rosenzweig believes that it could be possible to engineer anti-viral treatments that temporarily block the sugar-binding process. “Without that shell, the virus is going to be naked. When the virus is naked, it dies and it cannot infect other cells.”
One of the new drugs in development has been tested on HIV patients, and experiments have yielded promising results so far. “The worst side-effect was flatulence,” reveals Dr. Rosenzweig.
Unfortunately, for all the trouble they’ve endured, it doesn’t seem likely that this genetic mutation would eventually allow the young boy to run at superhuman speeds, or his sister to control probability and fire hex bolts. – TJD, GMA News