New gene for rare genetic



[ad_1]

Researchers have deciphered a new gene responsible for a rare form of genetic hair loss condition.

Hypotrichosis simplex occurs without other abnormalities. In infancy, fine hair tends to sprout sparsely. With increasing age, hair loss progresses. Ultimately, only a few hair is left on the head and body.

A team of researchers from the University of London found that changes in the lanosterol synthase (LSS) gene lead to the impairment of an important enzyme that has a crucial function in cholesterol metabolism.

However, the cholesterol blood values ​​of those affected are not changed, the endsings shown.

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

For the study, reported in the American Journal of Human Genetics, the team examines the coding of genes that are not related to each other and are of different ancestry.

A total of eight reports showed the typical symptoms of hair loss and had mutations in the LSS gene.

Using tissue samples, LSS is located in the hair follicle cells. The hair roots are formed in the follicle.

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

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

Maria-Teresa Romano, Ph.D. student of the varsity, said: "We are not yet able to say why we are hair out.

"It is likely that the displacement of the endoplasmic reticulum results in a malfunction."

"Romano said, adding that there is still a long way to go.

However, the discovery of the gene has already been made to improve the diagnosis of the rare disease.

[ad_2]
Source link