Hypotrichosis simplex leads to progressive hair loss already in childhood. A team of researchers led by human geneticists at the University Hospital of Bonn has now deciphered a new gene that is responsible for this rare form of hair loss. Changes in the LSS gene lead to impairment of an important enzyme that has a crucial function in cholesterol metabolism. The scientists now present their findings in the renowned journal “The American Journal of Human Genetics”.
In infancy, fine hair tends to sprout sparsely. With increasing age, hair loss progresses. Ultimately, only a few hairs are left on the head and body. Hypotrichosis simplex is a rare form of hair loss (alopecia).
The condition is limited to a few hundred families worldwide. So far, only a few genes are known that are causally related to the disease. Under the leadership of the Institute of Human Genetics at the University Hospital of Bonn, a team of researchers from Germany and Switzerland has now deciphered mutations in another gene that are responsible for hair loss.
The scientists 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. All those affected had mutations in 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.” However, the cholesterol blood values of those affected are not changed. Betz: “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."
Mutation leads to displacement of lanosterol synthase
Using tissue samples, the scientists tried to find out exactly where the lanosterol synthase is located in the hair follicle cells. The hair roots are formed in the follicle. 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.”
Prof. Dr. Matthias Geyer from the Department of Structural Immunology at the University of Bonn investigated the consequences of mutations for the structure of the enzyme lanosterol synthase. With him and Prof. Betz, there are now two principal investigators from the Cluster of Excellence ImmunoSensation of the University of Bonn, which was impressively endorsed in the latest round of the Excellence Competition and will receive further funding.
For the scientists, the current study result is an important finding: Each further gene decoded is yet another part of the jigsaw and helps to complete the picture of the biological basis of the disease. “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. Betz: “Those affected by hypotrichosis simplex only have to deal with hair loss. This is upsetting, but other organs are not affected.”
Univ.-Prof. Dr. med. Regina C. Betz
Institute of Human Genetics
University Hospital of Bonn
Maria-Teresa Romano, Aylar Tafazzoli, Maximilian Mattern, Sugirthan Sivalingam, Sabrina Wolf, Alexander Rupp, Holger Thiele, Janine Altmüller, Peter Nürnberg, Jürgen Ellwanger, Reto Gambon, Alessandra Baumer, Nicolai Kohlschmidt, Dieter Metze, Stefan Holdenrieder, Ralf Paus, Dieter Lütjohann, Jorge Frank, Matthias Geyer, Marta Bertolini, Pavlos Kokordelis, Regina C. Betz: Bi-allelic mutations in LSS, encoding lanosterol synthase, cause autosomal recessive hypotrichosis simplex, The American Journal of Human Genetics, DOI: https://doi.org/10.1016/j.ajhg.2018.09.011
Johannes Seiler | idw - Informationsdienst Wissenschaft
Inhaling air pollution-like irritant alters defensive heart-lung reflex for hypertension
19.06.2019 | University of South Florida (USF Innovation)
Nitric oxide-scavenging hydrogel developed for rheumatoid arthritis treatment
06.06.2019 | Pohang University of Science & Technology (POSTECH)
From June 25th to 27th 2019, the Fraunhofer Institute for Digital Media Technology IDMT in Ilmenau (Germany) will be presenting a new solution for acoustic quality inspection allowing contact-free, non-destructive testing of manufactured parts and components. The method which has reached Technology Readiness Level 6 already, is currently being successfully tested in practical use together with a number of industrial partners.
Reducing machine downtime, manufacturing defects, and excessive scrap
The quality of additively manufactured components depends not only on the manufacturing process, but also on the inline process control. The process control ensures a reliable coating process because it detects deviations from the target geometry immediately. At LASER World of PHOTONICS 2019, the Fraunhofer Institute for Laser Technology ILT will be demonstrating how well bi-directional sensor technology can already be used for Laser Material Deposition (LMD) in combination with commercial optics at booth A2.431.
Fraunhofer ILT has been developing optical sensor technology specifically for production measurement technology for around 10 years. In particular, its »bd-1«...
The well-known representation of chemical elements is just one example of how objects can be arranged and classified
The periodic table of elements that most chemistry books depict is only one special case. This tabular overview of the chemical elements, which goes back to...
Light can be used not only to measure materials’ properties, but also to change them. Especially interesting are those cases in which the function of a material can be modified, such as its ability to conduct electricity or to store information in its magnetic state. A team led by Andrea Cavalleri from the Max Planck Institute for the Structure and Dynamics of Matter in Hamburg used terahertz frequency light pulses to transform a non-ferroelectric material into a ferroelectric one.
Ferroelectricity is a state in which the constituent lattice “looks” in one specific direction, forming a macroscopic electrical polarisation. The ability to...
Researchers at TU Graz calculate the most accurate gravity field determination of the Earth using 1.16 billion satellite measurements. This yields valuable knowledge for climate research.
The Earth’s gravity fluctuates from place to place. Geodesists use this phenomenon to observe geodynamic and climatological processes. Using...
24.06.2019 | Event News
29.04.2019 | Event News
17.04.2019 | Event News
24.06.2019 | Event News
24.06.2019 | Agricultural and Forestry Science
24.06.2019 | Life Sciences