German University Gets To Roots Of Hair Loss, Discovers Gene That Causes Rare Form

November 6, 2018 marked a positive day for all hair loss sufferers! Researchers at the University of Bonn in Germany have discovered the gene that is responsible for hypotrichosis simplex, a rare heredity form of hair loss.

By looking at the coding genes of three families that possessed this hereditary condition (who were unrelated and of different ancestry), the scientists were able to reveal mutations in a specific gene — the LSS gene.

“This gene encodes lanosterol synthase — LSS for short,” said Prof. Dr. Regina C. Betz from the Institute of Human Genetics at the University Hospital of Bonn. “The enzyme plays a key role in cholesterol metabolism.”

The cholesterol in these patients, however, was unchanged. Betz explains:

“There is an alternative metabolic pathway for cholesterol, which plays an important role in the hair follicle and is not related to blood cholesterol levels.”

Since hair roots are formed within follicles, a close examination of different tissue samples helped them figure out where the lanosterol synthase was located within the hair follicle cells. If the LSS gene is mutated, the enzyme is present in the cytosol; if not, it is found in a system of very fine channels in the follicle cells, known as the endoplasmic reticulum. Though they are unsure why the location is playing so strong a role in hair loss, they believe that this displacement is what causes a malfunction in hair growth.

Hypotrichosis simplex generally manifests in early childhood; just as those with alopecia or male pattern baldness lose their hair over a span of approximately 20 years, those affected by hypotrichosis experience it much earlier in life:

“Individuals with hypotrichosis simplex experience a gradual loss of scalp hair that begins during the middle of the first decade and results in almost complete loss of hair by the third decade. A few sparse, fine, short hairs may remain in some individuals.”

Although this disorder is not the same form of hair loss that the majority of balding individuals suffer from, this discoveries made in the process of this research could be used to find the source of their hair loss in the future.

“A better understanding of the causes of the disease may in future enable new approaches to the treatment of hair loss.”

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