Uncombable hair: Researchers discover Struwwelpeter genes
In some children, the tousled hair cannot be combed despite all efforts. Researchers have now determined that certain genes are responsible for the "Struwwelpeter syndrome". However, the scientists do not have a solution to the problem.
Uncombable hair syndrome
Many parents know that children can often not be easily styled, but even the most stubborn knots can usually be solved with a lot of patience and strong nerves. Sometimes the brush just doesn't stand a chance. In German, this phenomenon is referred to as the "uncombable hair syndrome" or "Struwwelpeter syndrome". Almost nothing has been known about the causes - probably because there are only very few cases.
Childhood symptoms most pronounced
Researchers at the Universities of Bonn and Toulouse have now identified mutations in three genes that are responsible for this. In total, scientists from eight countries were involved in the work. The results have now been published in the specialist journal "American Journal of Human Genetics".
As the University of Bonn wrote in a communication, sufferers have “extremely frizzy, dry, mostly light blonde hair with a characteristic shine that successfully resist any effort to tame it. These symptoms are most pronounced in childhood and then subside over time. “According to the experts, hair can usually be styled more or less normally in adulthood.
Around 100 cases documented worldwide
The "Struwwelpeter syndrome" was first described in the specialist literature in 1973; over a hundred cases have now been documented worldwide. "But we assume that there are significantly more people affected," explains Professor Dr. Regina Betz from the Institute of Human Genetics at the University of Bonn.
“If you suffer from uncombable hair, you don't necessarily go to a doctor or a clinic.” It is known, however, that the anomaly is common in some families - so it seems to have genetic causes.
Mutations in three genes are the triggers
The Bonn geneticist at Bonn had first heard of a family with two affected children at a congress from a British colleague. "Through contacts with colleagues from all over the world, we were able to find nine more children," reports Prof. Betz.
The scientists then sequenced all of the genes affected and, when compared to large databases, they came across mutations in three genes that are involved in hair formation. The genes with the abbreviations PADI3, TGM3 and TCHH are crucial for the development of the syndrome. The first two genes contain building instructions for enzymes, the third / TCHH the instructions for an important protein of the hair shaft.
Proteins of great importance for healthy hair
“In healthy hair, the TCHH proteins are networked with each other via ultra-fine horn threads that are responsible for the shape and structure of the hair,” says the researchers. The two other genes found are also important here. "PADI3 changes the hair shaft protein TCHH so that the horn filaments can attach to it" and "the TGM3 enzyme then creates the actual link", explains the first author Dr. Fitnat Buket Basmanav Ünalan.
Why disturbances sometimes occur
According to the researchers, malfunctions in only one of the components have a fundamental impact on the structure and stability of the hair. They found that mice with defective PADI3 or TGM3 genes develop characteristic fur abnormalities that are very similar to the human Struwwelpeter.
"A great deal can be learned from the mutations found about the mechanisms involved in the formation of healthy hair and why there are sometimes disorders," said Prof. Regina Betz. "At the same time, we can now ensure the clinical diagnosis of" uncombable hair "using molecular genetic methods."
Hair abnormalities with serious comorbidities
The last point is good news for people with hair disorders, because some hair abnormalities are associated with serious comorbidities that sometimes only manifest themselves later in life.
Struwwelpeter syndrome, on the other hand, mostly occurs in isolation without further health impairments. According to Betz, the uncombable hair is annoying and possibly also a psychological burden. "Otherwise, those affected do not have to worry." (Ad)