Hypotrichosis simplex: Researchers uncover new hair loss genes

Hypotrichosis simplex: Researchers uncover new hair loss genes
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Hypotrichosis simplex leads to gradual hair loss in childhood and researchers have deciphered new hair loss genes responsible for this rare form of hair loss.

Researchers from the University Hospital of Bonn, Germany, present their findings in the renowned journal The American Journal of Human Genetics. Discovering newly analysed hair loss genes, human geneticists from the university focused upon hypotrichosis simplex looking specifically at changes in the LSS gene which leads to the impairment of an important enzyme that has a crucial function in cholesterol metabolism.

What do you know about Hypotrichosis simplex?

During infancy, fine hair is inclined to grow sparsely, and with increasing age, hair loss progresses, conclusively leading to only a few hairs are left on the head and body.

Hypotrichosis simplex is limited to a few hundred families worldwide, as of yet, only a few genes are known that are directly related to the disease.

The researchers examined the coding genes of three families that are not related to each other and are of different ancestry. A total of eight relatives showed the typical symptoms of hair loss. By essentially analysing the hair loss genes, the researchers found that all those affected had mutations in the LSS gene.

Professor Dr. Regina C. Betz from the Institute of Human Genetics at the University Hospital of Bonn explains further: “This gene encodes lanosterol synthase – LSS for short.

“The enzyme plays a key role in cholesterol metabolism. However, the cholesterol blood values of those affected are not changed. 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.”

Details of the research

Mutation of genes lead to displacement of lanosterol synthase, and using tissue samples, the scientists tried to find out exactly where the lanosterol synthase is located in the hair follicle cells.

If the LSS gene is not mutated, the associated enzyme is located in a system of very fine channels in the follicle cells, the endoplasmic reticulum. If a mutation is present, the lanosterol synthase also spreads outside these channels into the adjacent substance, the cytosol.

“We are not yet able to say why the hair is falling out,” says lead author Maria-Teresa Romano, a doctoral student in Prof. Betz’s team. “It is likely that the displacement of LSS from the endoplasmic reticulum results in a malfunction.”

Hair loss genes: decoding the puzzle

For the scientists, the current study result is a critical finding: each gene decoded is yet another part of the jigsaw and allows researchers to complete the picture of the biological basis of the condition.

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

But there is still a long way to go. However, the discovery of the gene already contributes to an improved diagnosis of the rare disease and have further insight into hair loss genes.

Betz concludes: “Those affected by hypotrichosis simplex only have to deal with hair loss. This is upsetting, but other organs are not affected.”

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