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The Discovery of an Uncombable Hair Gene

woman-586185_1920A Major Case of Bedhead

Do you ever wake up and attempt to run a brush through your unruly hair, only to end up ripping half of it out? Tangles and knots have been a part of some individuals’ lives ever since they were kids who cried at the sights of their parents wielding brushes. Detangling hair products and specially designed brushes exist to make our lives easier, but for many people efforts are futile. The struggles of some of those have a genetic basis: a rare genetic condition known as Uncontrollable Hair Syndrome (UHS). It affects approximately only one hundred people in the world, though more cases may be undiagnosed.

People affected by UHS usually have light-colored hair that sticks out from the scalp and is incapable of laying flat. This is caused by a triangular hair shaft that is observable on cross-section under a microscope. Currently, there is no specific treatment for UHS patients — only suggestions on how to manage it.

UHS and Genetics

Scientists consider UHS an inherited trait. This autosomal dominant condition does not affect all of those who have the mutation. This means that only one mutation is needed on the gene to cause the condition, but not everyone who has this mutation will outwardly exhibit the trait.

Until recently, scientists had not uncovered the gene linked to this condition. However, in November, researchers at the University of Bonn and the University of Toulouse identified mutations in three genes that contribute to the condition. They published their findings in the American Journal of Human Genetics. Two of the genes they found code for enzyme assembly, which increases the rate of a reaction; the remaining gene codes for a specific protein in the hair shaft. These three components comprise the structure and stability of hair, meaning a mutation of just one of these genes can have major effects.

This discovery contributes to both progress in diagnosing UHS on a molecular level, and a greater understanding of the components that create healthy hair. However, there is still no cure for the condition.

Editor: Robyn Sutter