Discovery of a new gene for rare genetic hair loss

London, November 7: Researchers have deciphered a new gene responsible for a rare form of genetic hair loss.

Simple hypotrichosis 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 degradation 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 finishing.

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

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

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

Using tissue samples, scientists attempted to determine the exact location of LSS in hair follicle cells. The roots of the hair form in the follicle.

If the LSS gene is not mutated, the badociated 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 out of these channels into the adjacent substance, the cytosol, the scientists observed.

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

"It is likely that the displacement of the LSS from the endoplasmic reticulum leads to dysfunction."

"A better understanding of the causes of the disease could in the future allow new approaches to the treatment of the loss. "said Romano, 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.