Scientists at IMBA – Institute of Molecular Biotechnology of the Austrian Academy of Sciences in Vienna have made a major advancement towards a future therapy for butterfly children. A treatment with fibroblasts generated from induced pluripotent stem cells has been highly successful in mice. The next step is to establish this method in humans.
“Butterfly children” suffer from Epidermolysis Bullosa (EB), a debilitating skin disease. It is caused by a genetic defect that leads to a deficiency or complete lack of various structural proteins. In one particularly severe form, the protein collagen 7 is either missing or present only in insufficient amounts.
If that bond is missing, the skin forms blisters or tears at the slightest mechanical pressure, leading to wounds and inflammation that require extensive treatment with creams and bandages. Often these constant lesions also lead to aggressive forms of skin cancer.
Presently there is no cure for this disease. But there are promising approaches that could lead to successful treatments in the future. One of them is a method called “fibroblast injection”. In this procedure, fibroblasts are injected between the layers of the skin, where they can produce the necessary collagen 7.
Researchers at IMBA under the leadership of Arabella Meixner have now been successful in developing this method to treat mice affected by EB. The individual steps of this treatment have been worked out and carefully tested in many years of laboratory work, and the results have now been published in the scientific journal “Science Translational Medicine”.
First the scientists returned skin cells of the diseased mice to the stem cell stage and then repaired the genetic defect, the root cause of the disease. Then the researchers transformed stem cells back into fibroblasts.
Before the repaired fibroblasts could be reintroduced into the organism, measures to prevent inflammation or rejection were necessary. In this study the researchers conducted a type of “toxicity test”, and the results were very promising. After several months of observation, no adverse immune reactions occurred, and the risk of skin cancer did not increase. That is an important consideration because “butterfly children” already have a greatly increased risk of skin cancer.
But the greatest success of the researchers was the significantly increased tear resistance of the skin. Arabella Meixner, research lead, is delighted at the good results: “Our mechanical stress test with a soft eraser brush demonstrated that the skin of the mice treated with the stem cell therapy remained stable, and that no more wounds occurred. That means there was enough collagen 7 between the skin cells to hold them together properly. Our study clearly showed that this method is suitable for a future therapy for “butterfly children.”
The next step is to establish this skin stem cell treatment in humans. To achieve that, the IMBA scientists intend to look for partners with clinical experience. For severe forms of Epidermolysis Bullosa, a systemic application needs to be developed to spread the cells throughout the entire body via the bloodstream to reach epithelial tissues that are more difficult to access, for example the mucous membranes in the mouth or bowels. Often in “butterfly children” with milder forms of the disease, only certain areas of the skin are affected. The skin stem cell therapy with local injections successfully tested on mice could lead to a valuable treatment method in the very near future.
The project conducted by IMBA scientists was initiated by the patient organization DEBRA Austria, and has had the financial support of the association and of other generous supporters since 2009. DEBRA's mission is to ensure that “butterfly children” receive competent specialized medical care and to promote research into options to relieve and cure EB. Further thanks also go to our funding and cooperation partners „Österreichische Lotterien“ and „FK Austria Wien“.
Wenzel et. al., iPSC-based cell therapy for Recessive Dystrophic Epidermolysis Bullosa. Science Translational Medicine. 2014.
Dr. Arabella Meixner, Research Lead
Tel. +43 664 2018084
Evelyn Devuyst | idw - Informationsdienst Wissenschaft
The birth of a new protein
20.10.2017 | University of Arizona
Building New Moss Factories
20.10.2017 | Albert-Ludwigs-Universität Freiburg im Breisgau
University of Maryland researchers contribute to historic detection of gravitational waves and light created by event
On August 17, 2017, at 12:41:04 UTC, scientists made the first direct observation of a merger between two neutron stars--the dense, collapsed cores that remain...
Seven new papers describe the first-ever detection of light from a gravitational wave source. The event, caused by two neutron stars colliding and merging together, was dubbed GW170817 because it sent ripples through space-time that reached Earth on 2017 August 17. Around the world, hundreds of excited astronomers mobilized quickly and were able to observe the event using numerous telescopes, providing a wealth of new data.
Previous detections of gravitational waves have all involved the merger of two black holes, a feat that won the 2017 Nobel Prize in Physics earlier this month....
Material defects in end products can quickly result in failures in many areas of industry, and have a massive impact on the safe use of their products. This is why, in the field of quality assurance, intelligent, nondestructive sensor systems play a key role. They allow testing components and parts in a rapid and cost-efficient manner without destroying the actual product or changing its surface. Experts from the Fraunhofer IZFP in Saarbrücken will be presenting two exhibits at the Blechexpo in Stuttgart from 7–10 November 2017 that allow fast, reliable, and automated characterization of materials and detection of defects (Hall 5, Booth 5306).
When quality testing uses time-consuming destructive test methods, it can result in enormous costs due to damaging or destroying the products. And given that...
Using a new cooling technique MPQ scientists succeed at observing collisions in a dense beam of cold and slow dipolar molecules.
How do chemical reactions proceed at extremely low temperatures? The answer requires the investigation of molecular samples that are cold, dense, and slow at...
Scientists from the Max Planck Institute of Quantum Optics, using high precision laser spectroscopy of atomic hydrogen, confirm the surprisingly small value of the proton radius determined from muonic hydrogen.
It was one of the breakthroughs of the year 2010: Laser spectroscopy of muonic hydrogen resulted in a value for the proton charge radius that was significantly...
17.10.2017 | Event News
10.10.2017 | Event News
10.10.2017 | Event News
20.10.2017 | Information Technology
20.10.2017 | Materials Sciences
20.10.2017 | Interdisciplinary Research