Many people have a great fear of loosing hair, for some this fear becomes a reality a soon as childhood. This is called hypotrichinosis complex. Those who have hyporichinosis complex will have hair as in infant, but their hair will begin to thin out early into childhood. Researchers have known that this is a hereditary trait, but they have now discovered the gene responsible for this type of hair loss. Those at the University Hospital of Bonn in Germany discovered that mutations is the LSS gene drive this defect. Lanosterol Synthase (LSS) is a gene that impacts the metabolic pathway to the health of hair follicles.
Researchers evaluated the DNA of three different families with no relation, of all the members eight of them experienced hair loss. All eight of those members had mutations in the LSS gene. Researchers continued their study from there. They collected and analyzed tissue samples from those with and without the mutation in the LSS gene in attempt to find out exactly where the lanosterol sythase is located in the hair follicle. They found that in the normal LSS gene enzymes of LSS where found in the endoplasmic reticulum. Those with the mutation in the LSS gene where found to have the enzyme spread outside of the endoplasmic reticulum and into the cytosol. This still doesn't fully explain why the hair falls out, but researchers have a theory.
They believe that the leakage of the LSS into the cytosol confuses the follicle and cause it to get rid of the hair. Although they don't fully understand the hair loss, this discovery broadens the picture behind the cause of this disease. There is still a while until they find a cure for this hair loss, but thankfully there is no other effect besides hair loss.
Cohut, Maria. “New Genetic Culprit Found for Early Progressive Hair Loss.” Medical News Today, MediLexicon International, 10 Nov. 2018, www.medicalnewstoday.com/articles/323635.php.