Many people lose their hair throughout their lifetime, but few lose it during early childhood due to a disorder called, hypotrichosis simplex. Researchers know that this disorder is hereditary but still have not been able to figure out how this occurs exactly. A study done by the University Hospital of Bonn in Germany analyzed genetic information of people from three families who were not related in anyway. 8 relatives were discovered to have the disorder and also all had mutations on their lanosterol synthase (LSS) gene which plays a key role in cholesterol metabolism. This gene influences a metabolic pathway that impacts the health of fair follicles. A carrier of the normal LSS gene has LSS located in the endoplasmic reticulum but a person with the mutated gene of LSS has LSS spread outside of the endoplasmic reticulum and into the cytosol which likely results in loss of function.
Therefore, hair lose that occurs in patients suffering from hypotrichosis simplex is linked to a mutation in the LSS gene. This knowledge can now allow researchers to focus on this specific mutation and try and find a solution in order to help those suffering. It also gives an explanation to those suffering from the disorder as to what exactly is wrong with them and why their family members have it too.