Researchers identify genetic cause of Struwwelpeter syndrome
The Struwwelpeter is known from the fairy tale of the same name for his wild hairstyle and his unobtrusive behavior. Some children naturally suffer from completely tousled hair, which is practically impossible to comb, what is known as Struwwelpeter syndrome, scientists from the University of Bonn explain. In a recent study, you identified the genes that are responsible for the phenomenon of Struwwelpeter syndrome.
Few children around the world suffer from Struwwelpeter syndrome (also known as the "disorganized hair syndrome"), the causes of which have so far remained largely unclear. A team of researchers led by the University of Bonn has now been able to identify mutations in three genes that lead to uncombable hair, the University of Bonn said.
Comb and brush with no chance
Children with Struwwelpeter syndrome have completely disheveled hair that is practically impossible to comb. "Many parents know from their own experience that children are not always easy to style," the researchers report. But with patience and strong nerves, even the most stubborn knot can usually be loosened. With the Struwwelpeter syndrome "brush or comb, however, do not stand a chance", the experts continue. Those affected show an extremely frizzy, dry, mostly light blonde hair with a characteristic shine, the researchers explain.
Struwwelpeter syndrome very rare
The most disheveled hair in Struwwelpeter syndrome is most pronounced in childhood and then wears off over time, the experts report. After all, in adulthood, hair can usually be styled more or less normally. The fact that little is known about the causes of the syndrome is also attributed to the fact that the phenomenon is relatively rare.
A good hundred cases have been documented so far
In 1973, the syndrome was described for the first time in the specialist literature and since then, a good hundred cases have been documented worldwide, the researchers say, "But we assume that there are significantly more people affected," said Professor Dr. Regina Betz from the Institute of Human Genetics at the University of Bonn. Because if you suffer from uncombable hair, you don't necessarily need to see a doctor or a clinic.
Suspected genetic cause
It was already known that the anomaly occurs frequently in some families, which is why the suspicion of a genetic cause was obvious. 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.
Mutations in three genes are the triggers
The Bonn scientists then sequenced all of the genes of those affected, and when comparing them with large databases, they encountered mutations in three genes that are involved in hair formation, reports the University of Bonn. The genes with the abbreviations PADI3, TGM3 and TCHH are crucial for the development of the syndrome. The first two genes contain instructions for building enzymes, the third (TCHH) contains instructions for an important protein in 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,” the researchers explain. 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.
Cross-linking of hair proteins disturbed
In studies on cell cultures, the researchers were able to determine that the cross-linking of the hair proteins is disturbed in the present mutation. "If even one of the three components is not functional, it has a fundamental impact on the structure and stability of the hair," reports the University of Bonn. Mice in which the PADI3 or TGM3 gene was defective also developed characteristic fur abnormalities that were very similar to the human phenotype.
Struwwelpeter syndrome without health consequences
Based on the mutations found, a lot can be learned about the mechanisms "that are involved in the formation of healthy hair and why disorders sometimes occur", emphasizes Prof. Betz. At the same time, the clinical diagnosis of "Struwwelpeter syndrome" can now be confirmed using molecular genetic methods. This is good news for people with hair disorders. Because other hair anomalies go hand in hand with serious comorbidities that only manifest themselves in later years of life. The Struwwelpeter syndrome, on the other hand, usually remains without further health impairments. The uncombable hair is annoying, but "otherwise, those affected do not have to worry," said Prof. Betz.