Researchers identify genetic factors that lead to premature hair loss
December 10, 2018 Source: Ministry of Science and Technology
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Many people now face the problem of hair loss, but a few people have experienced hair loss since childhood. This phenomenon is caused by a rare genetic disease called hypotyosis simplex. Recently, researchers have finally identified the genes that cause this form of hair loss.
The incidence of hair thinning patients is normal at birth, but they begin to lose hair early in childhood, and this hair loss will continue to increase with age. Although scientists know that this is a genetic disease, so far they have identified only a few potential genetic culprits. One of them is a mutation in the APCDD1 gene that interferes with signaling pathways that affect cell function and regeneration.
Now, researchers at the University Hospital Bonn in Germany, in collaboration with a number of other research institutions in Germany and Switzerland, have finally discovered another gene that plays a key role in this rare alopecia disorder. The study, published in The American Journal of Human Genetics, points out that mutations in the LSS gene drive the mechanism of simple hair thinning.
In the study, the researchers analyzed the genetic information of people from three families who were not relevant in any way. A total of 8 members have alopecia. By analyzing their genetic makeup, the researchers found that they all have mutations in the LSS gene, which normally encodes a specific enzyme.
Professor Regina C. Betz pointed out that the gene encodes lanosterol synthase, or LSS for short. LSS plays a key role in cholesterol metabolism. However, this has nothing to do with blood cholesterol levels. In contrast, the metabolic pathways affected by LSS affect hair follicle health. Professor Betz said: "This is another metabolic pathway for cholesterol, which plays an important role in hair follicles, but has nothing to do with blood cholesterol levels."
However, the researchers did not stop this discovery. Instead, they collected tissue samples and analyzed them to try to find out exactly where LSS hair follicles appeared. The team confirmed that if a person carries the normal LSS gene, the enzyme will appear in the endoplasmic reticulum. This is a set of tiny channels within the hair follicle cells. For people with mutations in the LSS gene, this enzyme diffuses from the endoplasmic reticulum of the cell into the cytosol.
The first author of the study, Dr. Maria-Teresa Romano, admitted that they were not sure why the hair would fall off. But they generally believe that there is a view that it is likely that the displacement of the LSS from the endoplasmic reticulum will cause some dysfunction.
Despite this, scientists are excited about the findings of this research. These findings give them a more complete picture of the causes of simple hair thinning. Professor Betz said: "A better understanding of the cause of the disease can help us develop new ways to treat hair loss."
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