10:10:44am | 10-Nov-2018 | 980 | 79


Published 2 hours ago

By Maria Cohut

Fact checked by Jasmin Collier


Many people face hair loss, but only a few experience it from as early as childhood. This occurs in a rare hereditary condition called hypotrichosis simplex. Now, finally, researchers have been able to identify the gene responsible for this form of hair loss.

gene concept illustration

One gene may drive the mechanisms behind a rare form of hair loss.

Individuals with hypotrichosis simplex have a normal amount of hair after birth, but they start losing it in early childhood. This loss continues to progress with age.

Although researchers know that this is a hereditary condition, so far, they have only identified few of the potential genetic culprits.

One of these is a mutation in the APCDD1 gene, which interferes with a signaling pathway that influences cell function and regeneration.

Now, researchers from the University Hospital of Bonn in Germany, in collaboration with colleagues from other institutions in Germany and Switzerland, have closed in on another gene that plays a crucial role in this rare type of hair loss.

Their study, the findings of which appear in The American Journal of Human Genetics, indicate that mutations in the LSS gene drive the mechanisms that characterize hypotrichosis simplex.

A mutated gene plays a key role

The scientists analyzed the genetic information of people from three families that were not related in any way. In total, eight relatives experienced hair loss symptoms.

Looking at their genetic makeup, the investigators found that they all had mutations in the LSSgene, which normally encodes a specialized enzyme.

"This gene encodes lanosterol synthase — LSS for short," notes study author Prof. Regina C. Betz. "The enzyme," she adds "plays a key role in cholesterol metabolism."

However, this has nothing to do with blood cholesterol levels. Instead, LSS influences a metabolic pathway that impacts the health of hair follicles.