Known since 1973, the rare disease of uncombable hair syndrome has just been deciphered, according to the results of a study published in the medical The American Journal of Human Genetics. It would be due to a genetic modification of three genes.
Uncombable hair syndrome is a rare hair disease of which the origin is not well known. It usually begins in childhood between 3 months and 12 years old. Children’s hair is dry and messy and gradually turns silvery blonde or straw-colored. “The hair stands on end on the scalp and grows in all directions. It is impossible to style them or to flatten them with a comb, ”remind the authors. In adulthood the syndrome most often disappears.
A syndrome linked to the mutation of three genes
Researchers have identified that the disease is caused by recessive mutations in a trio of genes involved in hair formation, “the gene encoding one of its structural components, trichohyalin (TCHH); or two genes at the origin of enzymes which target it in turn: peptidyl-arginine deiminase 3 (PAD3) and transglutaminase 3 (TGase3) ”.
“The absence of TCHH, (active in the good holding of the hair) are responsible for the abnormalities of hair formation characteristic of the syndrome of uncombable hair or” pili trianguli and canaliculi “explains would be responsible for this syndrome”, explains Michel Simon. “These results, in addition to describing the molecular origin of the disease and allowing a better diagnosis, bring new knowledge on the hair and the mechanisms of its formation”.
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