Despite the far we have come, using sophisticated technologies trying to manage hair loss, scientists are still straggling to identify the actual triggers of certain conditions leading to baldness – one being the rare hypotrichosis simplex.
In particular, hypotrichosis causes progressive hair loss, and the sad part is that this starts at childhood. The actual trigger and the way this disease progresses has been the biggest puzzle.
However, according to new developments in research, geneticists at the University of Bonn say they have deciphered a new gene they believe is the culprit responsible for this rare disease.
Hypotrichosis Simplex in a Nutshell
During its infancy stages, the affected may begin to experience sparse sprouting of hair at certain regions of the head. The hair would have very fine texture, a sign of weakness in the hair’s structure. Now, with an increase in age, the simplex becomes more evident as hair loss advances.
According to medical statistics, hypotrichosis is not common and only contributes to a small percent of the conditions that cause hair loss. Scientists refer hair loss in general as alopecia. Top on that, findings reveal that this particular hair loss affects only a few hundred families worldwide and that to this extent, only a handful of genes have been linked directly or found relating to the condition.
The New Gene for Hair Loss
Now like adding to the list, a team of researchers from Switzerland and Germany, at the University Hospital of Bonn, Institute of Human Genetics, says they have deciphered mutations with similar outcomes, but from another gene. And their tests hold the mutation responsible for this type of alopecia.
In the work, the team investigated the coding genes of three different families – completely unrelated to each other and found that in all the eight descendants, clear symptoms of hair loss were seen in each generation.
They also established that all the affected victims underwent mutations in their lanosterol synthase gene process (LSS). In explaining that, Prof. and DR. Regina Betz, one of the researchers said, “We noted this gene encodes LSS, an enzyme known to play a very important role in cholesterol metabolism. And in observation, contrary to what it should be, the blood values of cholesterol failed to change. Instead, an alternative metabolic path was observed, that impacted the hair follicle structure, which did not relate to the blood cholesterol levels.” The findings now published in the recent issue of the American Journal of Human Genetics.
What This Means to the Future of Diagnosing Hair Loss
The researchers dug deep to try and find out the exact location of lanosterol synthase within the hair follicle cells. What they discovered is that hair roots develop right from the follicle. Which means, in case of a mutation, the lanosterol synthase gets spread to other adjacent channels, making it more difficult to tell why hair falls out.
Nonetheless, the team says, them being able to find this new gene, and how it decodes LSS, is a jigsaw that would help them model out the actual biological basis of the disease. Betz also clarified that other than hair loss, hypotrichosis simplex does not seem to affect other organs in the body.