Scientists looking into a phenomenon known as ‘uncombable hair’ think they’ve found the mutated genes behind the problem.
‘Uncombable hair syndrome’ is pretty self-explanatory, and it’s also extremely rare. 100 cases have been documented since it was first written of in 1973.
However, scientists investigating the ailment – the characteristics of which include extremely frizzy, dry, generally light blonde hair – think they’ve found the root cause: mutated genes.
Despite the 100 documented cases, Prof Regina Betz, from the Institute for Human Genetics at the University of Bonn in Germany, thinks there are many more sufferers.
As people would hardly seek medical help for having weird hair, the issue is essentially under-reported to a significant degree, she said.
After a colleague approached Betz with a rare case of two children in the same family suffering from the problem, she was keen to investigate.
“Via contact with colleagues from around the world, we managed to find nine further children,” she said, with Betz and her Bonn team sequencing all the genes of those affected.
When comparing large databases, they came across mutations in three genes that are involved in forming the hair.
The changed genes are PADI3, TGM3 and TCHH. The first two contain the assembly instructions for enzymes, while the third contains an important protein for the hair shaft.
“From the mutations found, a huge amount can be learned about the mechanisms involved in forming healthy hair, and why disorders sometimes occur,” said Betz.
“At the same time, we can now secure the clinical diagnosis of ‘uncombable hair’ with molecular genetic methods.”
‘Uncombable hair’ symptoms are most pronounced in childhood and then ease over time. According to Bonn University, in adulthood, the hair can more or less be styled normally.
Though the disorder is laborious and stressful, Betz insists, “those affected have no need to otherwise worry”.
Betz’s research is published in Cell.