Monday , November 29 2021

Scientists identify the gene responsible for childish baldness



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Simple hypotrichosis, also called childish baldness, is a condition of the scalp that occurs in the early stages of development characterized by hair loss. So far, the causes of this disease are unknown; However, a team of scientists has taken a step forward in identifying their genetic bases.

In this sense, a team of scientists composed of human geneticists from Bonn University Hospital has identified a gene responsible for this rare form of baldness. This represents improved diagnostic methods and ensures the development of future therapies.

Genetic bases of childish baldness

While childhood alopecia is a rare condition, limited to several hundred families around the world, scientists have been concerned about identifying its causes and possible treatments; The main characteristic of the disease is the sparse growth of thin hair during childhood, followed by advanced hair loss until total baldness, both in the head and in the rest of the body.

To date, little is known about the genetic basis of the disease; However, a team of scientists has identified the genetic mutations that cause this disorder. To this end, the genome of three families that are not related to different sources is examined.

In all these families there were people who showed typical symptoms of this type of baldness; Altogether, 8 people from these family groups were affected by the disease, so after the genetic analysis, patients had mutations in the LSS gene.

The LSS gene is responsible for encoding lanolol synthase, an enzyme of great importance in the process of cholesterol metabolism; However, the blood cholesterol levels of these patients were within normal parameters. Instead, this mutation affects an alternate pathway in the metabolism of cholesterol, which plays important roles within hair follicles, where hair roots are formed.

Genetic mutation will be responsible for this disease

This discovery can encourage the development of effective treatments.

To penetrate the phenomenon, the researchers analyzed tissue samples; In this way, it was supposed to reveal where the lanololol synthase is located in the hair follicles. In this way, it was observed that in the absence of mutations of the LSS gene, the enzyme is found in a very thin channel system called the endoplasmic reticulum.

On the other hand, when there are mutations, the lanololol synthase spreads outside the reticulum, affecting an adjacent substance called cytosol. In this context, despite the causes of hair loss are unknown, the researchers suggest that the movement of the enzyme within the hair follicle may cause dysfunction within it.

Finally, researchers hope for the possibilities of deciphering the biological and genetic bases of childlike baldness; In addition, it is suggested that by understanding the reasons for this condition, it will be possible to develop effective treatment methods that allow to prevent hair loss.

Reference: Bi-allele mutations in LSS, encoding Lanosterol Synthase, autosomal-withdrawal reason Hypotrichosis Simplex, (2018). https://doi.org/10.1016/j.ajhg.2018.09.011

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