Discovery of a new gene for rare genetic hair loss

The researchers have decrypted a new gene responsible for a rare form of hair loss of genetic origin.

Hypotrichosis simplex occurs without other abnormalities. In early childhood, thin hair tends to sprout sparingly. With age, hair loss progresses. In the end, there are only a few hair left on the head and body.

A team of researchers at the University Hospital Bonn found that modifications of the lanosterol synthase (LSS) gene lead to the breakdown of an important enzyme that plays a crucial role in cholesterol metabolism.

However, the blood cholesterol results of the affected people are not changed, revealed the ranking.

"There is an alternative metabolic pathway for cholesterol, which plays an important role in the hair follicle and is not related to cholesterol levels in the blood," said Regina C. Betz of the Institute of human genetics of the University.

For the study, published in the American Journal of Human Genetics, the team examined the coding genes of three unrelated families of different ancestry.

In total, eight members of the family presented typical symptoms of hair loss and had mutations in the LSS gene.

Using tissue samples, the scientists tried to determine exactly where the LSS was in the hair follicle cells. The roots of the hair form in the follicle.

If the LSS gene is not mutated, the associated enzyme is located in a system of very fine channels in follicular cells, the endoplasmic reticulum.

If a mutation is present, lanosterol synthase also spreads outside these channels into the adjacent substance, the cytosol, the scientists observed.

"We are not yet able to tell why the hair is falling," said the main author, Maria-Teresa Romano, a university PhD student.

"It is likely that the displacement of the LSS from the endoplasmic reticulum will cause a malfunction."

"A better understanding of the causes of the disease could in the future allow new approaches to the treatment of hair loss," Romano said, adding that there was still a long way to go.

However, the discovery of the gene already contributes to improving the diagnosis of the rare disease.