Only a few know the rare bone disease FOP: as in a nightmare, muscles and connective tissue are transformed into bone - and those affected are literally walled up alive. As a result, these patients become prisoners of their own body. Scientists of the Faculty of Medicine Carl Gustav Carus at the TU Dresden have now discovered a protein that inhibits excessive bone formation in FOP. In the future, this could be a therapeutic approach. The discovery is patented and the results of the study were published in the journal "Nature Metabolism" (www.nature.com/natmetab/, https://doi.org/10.1038/s42255-018-0005-8).
A total of four million children and adults in Germany are affected by one of more than 6,000 rare diseases. Many of these diseases are still rather unexplored, and there is still no effective therapy for the majority of these diseases.
Take Fibrodysplasia Ossificans Progressiva (FOP). For patients, the diagnosis means the progressive ossification of soft tissue and muscles.
Healthy muscles, ligaments and tendons transform into bones - all in the wrong place - resulting in stiffness and permanent immobility as if you were permanently trapped in a cast.
The growth of bone-like structures where usually no bone is (ectopic ossification) may occur without warning or is triggered by a slight bump. The underlying cause is a gene defect that leads to a defective building plan for the ACVR1 receptor.
Scientists of the Bone Lab of the University Hospital at the TU Dresden have now discovered a protein that links two apparently unrelated systems.
Transferrin receptor-2 (Tfr2), responsible for iron metabolism, was discovered as a new component in bone metabolism. Tfr2 binds to so-called bone morphogenetic proteins (BMPs), which are responsible for the mineralization of bone.
Together with an interdisciplinary team of international researchers, the Bone Lab has now discovered that the binding region of Tfr2 can also be used to neutralize BMPs to prevent misplaced bone formation. Professor Martina Rauner and her colleagues were surprised:
"When we saw how potent the binding region of Tfr2 inhibited the undesired soft tissue ossification in the animal model, we realized that this discovery may have the potential for clinical development."
Martina Rauner, biotechnologist and scientific director of the "Bone Lab" has dedicated her career to the study of bone diseases. It took years of intensive collaboration to decipher the therapeutic potential.
So far, there is no suitable therapy for the approximately 700 patients worldwide and the 30 people affected by FOP in Germany. However, now there is new hope, states Dr Ulrike Baschant: "Kymab, a therapeutic anti-body company in Cambridge, will promote the clinical development of Tfr2 based on our discovery in Dresden.”
This landmark discovery is significant not only for patients with FOP, but also for those with more common skeletal disorders, such as heterotopic ossification, a disease that occurs after hip replacement surgery or major trauma.
The two main authors, Martina Rauner and Ulrike Baschant, report about their finding in the journal Nature Metabolism. The discovery of the protein was the result of international cooperation for many years, amongst others with scientists from the University of Torino in Italy.
With the help of a dozen scientists, they worked in the lab to solve another puzzle of science. Martina Rauner is happy that the "newly created knowledge may serve novel therapies that could improve the lives of children and adults with bone diseases". Ulrike Baschant adds, "It is a decisive step towards regaining physical independence and personal freedom!"
Prof. Dr. Martina Rauner
Scientific Director "Bone Lab"
Medical Clinic III
University Centre for Healthy Ageing
University Hospital and Medical Faculty Carl Gustav Carus of TU Dresden
Phone: +49 351 458 4206
Transferrin receptor 2 controls bone mass and pathological bone formation via BMP and Wnt signalling, in: Nature Metabolismvolume 1, pages111–124 (2019) , doi.org/10.1038/s42255-018-0005-8, https://www.nature.com/articles/s42255-018-0005-8
Stephan Wiegand | idw - Informationsdienst Wissenschaft
The Secret of the Rock Drawings
24.05.2019 | Max-Planck-Institut für Chemie
Chemical juggling with three particles
24.05.2019 | Rheinische Friedrich-Wilhelms-Universität Bonn
A new assessment of NASA's record of global temperatures revealed that the agency's estimate of Earth's long-term temperature rise in recent decades is accurate to within less than a tenth of a degree Fahrenheit, providing confidence that past and future research is correctly capturing rising surface temperatures.
The most complete assessment ever of statistical uncertainty within the GISS Surface Temperature Analysis (GISTEMP) data product shows that the annual values...
Physicists at the University of Basel are able to show for the first time how a single electron looks in an artificial atom. A newly developed method enables them to show the probability of an electron being present in a space. This allows improved control of electron spins, which could serve as the smallest information unit in a future quantum computer. The experiments were published in Physical Review Letters and the related theory in Physical Review B.
The spin of an electron is a promising candidate for use as the smallest information unit (qubit) of a quantum computer. Controlling and switching this spin or...
Engineers at the University of Tokyo continually pioneer new ways to improve battery technology. Professor Atsuo Yamada and his team recently developed a...
With a quantum coprocessor in the cloud, physicists from Innsbruck, Austria, open the door to the simulation of previously unsolvable problems in chemistry, materials research or high-energy physics. The research groups led by Rainer Blatt and Peter Zoller report in the journal Nature how they simulated particle physics phenomena on 20 quantum bits and how the quantum simulator self-verified the result for the first time.
Many scientists are currently working on investigating how quantum advantage can be exploited on hardware already available today. Three years ago, physicists...
'Quantum technologies' utilise the unique phenomena of quantum superposition and entanglement to encode and process information, with potentially profound benefits to a wide range of information technologies from communications to sensing and computing.
However a major challenge in developing these technologies is that the quantum phenomena are very fragile, and only a handful of physical systems have been...
29.04.2019 | Event News
17.04.2019 | Event News
15.04.2019 | Event News
24.05.2019 | Physics and Astronomy
24.05.2019 | Medical Engineering
24.05.2019 | Life Sciences