Many people face hair loss, but only a few are experiencing this since childhood. This occurs in the rare hereditary condition called hypotrichosis simplex.
Now finally, the researchers were able to identify the gene responsible for this form of early progressive loss of hair. People with hypotrichosis simplex a normal amount of hair after birth, but they begin to lose their early childhood. This loss increases with age.
Although the researchers know that it is a hereditary condition, so far they have identified only a few genetic potential criminals.
One of them is the mutation in the APCDD1 gene, which interferes with signaling pathways that affect cell function and regeneration.
Now researchers from the University hospital in Bonn, Germany in cooperation with colleagues from other institutions in Germany and Switzerland found another gene that plays a crucial role in this rare type of hair loss.
Their study, published in the American Journal of Human Genetics, indicate that mutations in the LSS control mechanisms characterizing the simplex hypotrichosis.
The researchers analyzed the genetic information of the people of three families who in no way were related. A total of eight relatives experienced symptoms of hair loss.
Looking at their genetic makeup, the researchers found that they all had mutations in the LSS, which typically encodes a specialized enzyme.
“This gene encodes lanosterol-synthase – LSS for short,” notes the study’s author, Professor Regina C. Betz. “The enzyme, she adds, and plays a key role in the metabolism of cholesterol.”
However, this has no relationship to the levels of cholesterol in the blood. Instead, LSS affects the metabolic pathway that determines the health of hair follicles.
“There is an alternative metabolic pathway for cholesterol, which plays an important role in the hair follicle and is not associated with the levels of cholesterol in the blood,” – said Professor Betz.
However, the researchers did not stop at this discovery. They collected tissue samples that were analyzed. The team was able to confirm if a person carries regular LSS gene, the enzyme appears in the endoplasmic reticulum. This is a set of tiny channels inside the cells of the follicle.
In the case of people with LSS mutated, the researchers found that the enzyme actually extends beyond the endoplasmic reticulum and in the cytosol, the intracellular fluid.
“A better understanding of the causes of the disease in the future may allow to find new approaches to the treatment of hair loss,” says Professor Betz.
However, it may take a long time until scientists actually find an effective treatment for this progressive hair loss.