Tuesday , July 5 2022

Scientists identify the gene that is responsible for childhood alopecia


Simple hypotrichosis, also known as infant alopecia, is the condition of the skin of the head that occurs in the early stages of the development characterized by losing hair. So far, the causes of this disease are not known; However, a team of scientists has taken a step forward in identifying their genetic centers.

In this sense, a team of scientists that include human genetics from the University Hospital of Bonn, has identified a gene that is responsible for the unusual type of alopecia. This is an improvement in diagnostic methods and promises the development of future treatments.

Genetic centers of childhood alopecia

Although childhood alopecia is a rare condition, limited to just a few hundreds of families around the world, scientists have been worried to identify their causes and possible treatments; The main feature of this disease is a short hair vacancy during childhood, and then loses hair gradually until reaching a whistleblock, in the head and in the rest of the body.

So far, 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 do that, genome was examined by three families without a relationship with different drops.

In all these families, people showed the typical symptoms of this type of alopecia; Overall, eight people of these family groups were affected by the above disease. Therefore, after the genetic analysis, patients were found to have had mutations in the LSS gene.

The LSS gene is responsible for coding lanosterol synthase, enzyme of great importance in the process of cholesterol metabolism; however, these patients' blood cholesterol levels were in normal parameters. Instead, this mutation affects another path of metabolic cholesterol, which carries out important functions within the hair follicles, where hair roots are formed.

Genetic would be responsible for this disease

This finding could encourage the development of effective treatments.

To further extend to the phenomenon, researchers analyzed tissue samples; In this way, it is intended to find out where the lanosterol synthase has locked the inside of hair follicles. In this way, in the absence of LSS gene mutations, the enzyme was found to locate in a very thin channel system called the endoplasmic reticulum.

On the other hand, when there are mutations, lanosterol synthase extends outside the reticulum, which affects a neighboring substance of the conusive name. In this regard, although hair loss cases are not anonymous, researchers suggest that displacement of the enzyme within the hair follicle may cause insufficient operation in it.

Finally, researchers are optimistic about the possibilities of rejecting the biological and genetic centers of childhood alopecia completely; In addition, it is proposed, by understanding the causes of this condition, that effective treatment methods that can prevent hair loss can be developed.

Reference: Bi-allelic Mutations in LSS, Synthase Lanosterol Encoding, Simple Automatic-Regenerative Hypotrichosis (2018). https://doi.org/10.1016/j.ajhg.2018.09.011

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