Unextended hair syndrome caused by a rare genetic mutation

In the 2009 documentary good hair (Currently Flocking on the peacock!), Chris Rock investigates the complications and societal expectations surrounding hair, particularly in relation to black women. The documentary interacts with the perceived negativity surrounding certain types of poetry, and the resulting privilege or deficiency.

It’s a window into an area of ​​life that some of us don’t often think about, the ways racism, prejudice, and preconceptions bleed into every aspect of our society. The bottom line is that there is no such thing as good hair or bad hair – or at least there shouldn’t be – there is only hair we have.

hair comes All kinds of configurations. Differences in the shape of the bulb and the hair fibers themselves determine whether a person’s hair is straight, curly, thick or thin. A rarer condition gives a small group of people some of the most exotic hair on the planet.

Related: The secret to great hair? has evolved

Unextended hair syndrome may seem like a condition created in SNL The writers’ room for an upcoming sketch, but it’s totally real. Only about 100 cases have been reported and scientists, for a while, weren’t clear about its cause.

Individuals with non-extendable hair syndrome show fine, sometimes silver-colored hair that sticks out in all directions. Instead of falling out as most hair does, at least most of the time, UHS hair grows directly from the follicle. No matter how hard they try, their hair does not respond to external influence. It will not lie flat, no matter how long it is cleaned, leaving affected people looking as if they are They drag their socks over the carpet Very long.

The rare conditions are incredibly difficult to study, due to the small sample size and the difficulty of collecting data, but scientists at the University of Bonn are beginning to make progress toward understanding UHS. In 2017, they completed Small study on 11 peopleAll of them have been identified as a UHS case. These first 11 people were all children, which is common for UHS. In most cases, the hair settles down as children get older. Thus, scientists believe that there may be more people with UHS who have reached adulthood and are not aware of it.

After the initial study, the researchers received calls from people around the world who believed they or someone they knew had UHS. Therefore, they began to collect samples. In the end, they identified 107 potential UHS individuals and began combing through their DNA.

The The results of the new study Published August 31, 2022 in the magazine Gamma Dermatology. Nearly three-quarters of the participants – 80 out of 107 participants – shared a mutation in a single gene known as PAD13. This gene is responsible for producing an enzyme that plays a role in the formation of hair strands.

Normally, hair grows like a cylinder, almost circular even at a microscopic level. When the PAD13 is mutated, the cylinder collapses in some places, making the shaft appear almost jammed. This characteristic is thought to be responsible for the temperamental behavior of UHS hair. Of the 27 participants who did not have this specific difference, few had differences in other hair shaft genes. The rest remains unexplained.

The researchers now hope to have identified the common gene responsible in most cases, and can diagnose it and help calm any fear in parents’ minds. The good news is that there are no medical concerns for people with UHS. The syndrome generally recovers on its own over time, and even if it does not, there are no downstream effects. Except perhaps for a larger-than-usual hat budget.

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