The Case Of The Girl Who Couldn't Feel Pain

A team of European researchers finds the genetic mutation responsible for a subject's inability to feel pain.

"Index Subject 1"—the anonymous girl or woman who participated in this new study—is unusual in a couple of ways. For one thing, she cannot feel pain. It's a dangerous condition for her. Photos published in a paper about her show severe injuries to her head, face and knee, the latter of which she has fractured multiple times.

For another, she has a super-rare gene mutation, which the scientists couldn't find in any of the human genome databases they scoured. That gene mutation, the researchers think, is what protects Index Subject 1 from pain.

Index Subject 1's story is a cool bit of genetic sleuthing. It could also help her in the future: If a single mutation really is the root of most of her symptoms, then researchers could come up with a drug to target the specific protein her mutated gene makes. Her gene could also be a target for future painkillers for others' chronic pain. However, there's no immediate solution for her in this study, nor for the anonymous male the researchers later found who had the same mutation as she did.
Researchers compared Index Subject 1's genes with several human genome databases. They found just one genetic mutation that appeared in her, and nobody else.

Index Subject 1's research team—including scientists from Belgium, Sweden, and her home country, Germany—found her mutation by analyzing the genomes of both her and her parents. The researchers compared the family's genes with several human genome databases, such as "1,000 Genomes," which includes all the genes of 1,092 people from 14 populations. The scientists found a single genetic mutation that appeared in Index Subject 1, but nowhere else.

FOR MOBILE USERS!! are you tired of high rate of consumption of your data? WORRY NO MORE click the link below using your mobile browser (uc web or opera mini)

click the link below using your mobile browser (uc web or opera mini)
MOBILE VERSION