Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

New type of rare brittle-bone disease discovered

06.07.2016

Researchers from the University of Zurich and University Children’s Hospital Zurich have dis-covered the first X-chromosome-inherited type of the congenital disease osteogenesis imperfecta, also known as brittle-bone disease. The new discovery improves the genetic diagnosis of the disease and paves the way to possible improved treatment options for patients.

Between 300 and 400 people in Switzerland and around half a million worldwide suffer from brittle-bone disease, which causes their bones to break like glass. Not only is their bone formation insuffi-cient; other body tissues containing connective tissue are also affected.


People with osteogenesis imperfecta often break their bones (image: thinkstock)

Cecilia Giunta and Marianne Rohrbach, both researchers from the Children’s Research Center at the University Children’s Hospital Zurich, their teams and colleagues from the USA and Thailand have now detected a new type of brit-tle-bone disease, identifying two families with a total of eight patients in all.

The patients suffer from heightened bone fragility, bone deformities and stunted growth. In both families, this new form of oste-ogenesis imperfecta was caused by two different mutations of the same gene (MBTPS2) in the X chromosome. The disease is inherited in an X-chromosome-recessive manner and affects men and boys as only they carry a copy of the X chromosome.

Simple test in the urine

“Exactly how common the newly discovered disease is remains unclear,” says Cecilia Giunta. “That said, it’s easy to identify other patients, as we demonstrated that the disease can be diagnosed with a simple measurement of biomarkers in the urine.”

These biomarkers indicate changes in the crosslink-ing between the structural proteins in the bone. MBTPS2 encodes a protease, i.e. a protein, which is able to cut and therefore activate other proteins – so-called transcription factors. These activated pro-teins bind to the DNA and regulate genes involved in the bone and sterol metabolism and the regula-tion of cell stress.

This was primarily shown in zebra fish in 2003. Shortly afterwards, researchers dis-covered that IFAP syndrome, a group of rare dermatological diseases in humans, is caused by muta-tions in MBTPS2.

“Surprisingly, mutations in the gene MBTPS2 also cause a completely different disease, namely oste-ogenesis imperfecta,” explains Marianne Rohrbach. The culprit is a change in the bone metabolism, which no longer seems to be impaired in the case of dermatological diseases.

Exactly how and why mutations can trigger two completely different diseases in the same gene remains unclear. The team headed by Cecilia Giunta and Marianne Rohrbach are now focusing their research on finding the an-swer. The scientists hope to gain new insights into bone developments and sterol metabolism, which could one day mean improved treatment options for patients.

Literature:
Uschi Lindert, Wayne Cabral, Surasawadee Ausavarat, Siraprapa Tongkobpetch, Katja Ludin, Aileen Barnes, Patra Yeetong, MaryAnn Weis, Birgit Krabichler, Chalurmpon Srichomthong, Elena Makaree-va, Andreas Janecke, Sergey Leikin, Benno Röthlisberger, Marianne Rohrbach, Ingo Kennerknecht, David Eyre, Kanya Suphapeetiporn, Cecilia Giunta, Joan Marini, and Vorasuk Shotelersuk. MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta. Nature Communications. DOI: 10.1038/NCOMMS11920


Contacts:
Dr. sc. nat. Cecilia Giunta
Division of Metabolic Diseases,
Children’s Research Center, Children’s Hospital Zurich
Phone: +41 266 73 10
E-mail: cecilia.giunta@kispi.uzh.ch

PD, Dr. med. et phil. nat. Marianne Rohrbach
Division of Metabolic Diseases,
Children’s Research Center, Children’s Hospital Zurich
Phone: +41 266 73 10
E-mail: marianne.rohrbach@kispi.uzh.ch

Beat Müller | Universität Zürich
Further information:
http://www.uzh.ch/

More articles from Life Sciences:

nachricht Nanoparticle Exposure Can Awaken Dormant Viruses in the Lungs
16.01.2017 | Helmholtz Zentrum München - Deutsches Forschungszentrum für Gesundheit und Umwelt

nachricht Cholera bacteria infect more effectively with a simple twist of shape
13.01.2017 | Princeton University

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Interfacial Superconductivity: Magnetic and superconducting order revealed simultaneously

Researchers from the University of Hamburg in Germany, in collaboration with colleagues from the University of Aarhus in Denmark, have synthesized a new superconducting material by growing a few layers of an antiferromagnetic transition-metal chalcogenide on a bismuth-based topological insulator, both being non-superconducting materials.

While superconductivity and magnetism are generally believed to be mutually exclusive, surprisingly, in this new material, superconducting correlations...

Im Focus: Studying fundamental particles in materials

Laser-driving of semimetals allows creating novel quasiparticle states within condensed matter systems and switching between different states on ultrafast time scales

Studying properties of fundamental particles in condensed matter systems is a promising approach to quantum field theory. Quasiparticles offer the opportunity...

Im Focus: Designing Architecture with Solar Building Envelopes

Among the general public, solar thermal energy is currently associated with dark blue, rectangular collectors on building roofs. Technologies are needed for aesthetically high quality architecture which offer the architect more room for manoeuvre when it comes to low- and plus-energy buildings. With the “ArKol” project, researchers at Fraunhofer ISE together with partners are currently developing two façade collectors for solar thermal energy generation, which permit a high degree of design flexibility: a strip collector for opaque façade sections and a solar thermal blind for transparent sections. The current state of the two developments will be presented at the BAU 2017 trade fair.

As part of the “ArKol – development of architecturally highly integrated façade collectors with heat pipes” project, Fraunhofer ISE together with its partners...

Im Focus: How to inflate a hardened concrete shell with a weight of 80 t

At TU Wien, an alternative for resource intensive formwork for the construction of concrete domes was developed. It is now used in a test dome for the Austrian Federal Railways Infrastructure (ÖBB Infrastruktur).

Concrete shells are efficient structures, but not very resource efficient. The formwork for the construction of concrete domes alone requires a high amount of...

Im Focus: Bacterial Pac Man molecule snaps at sugar

Many pathogens use certain sugar compounds from their host to help conceal themselves against the immune system. Scientists at the University of Bonn have now, in cooperation with researchers at the University of York in the United Kingdom, analyzed the dynamics of a bacterial molecule that is involved in this process. They demonstrate that the protein grabs onto the sugar molecule with a Pac Man-like chewing motion and holds it until it can be used. Their results could help design therapeutics that could make the protein poorer at grabbing and holding and hence compromise the pathogen in the host. The study has now been published in “Biophysical Journal”.

The cells of the mouth, nose and intestinal mucosa produce large quantities of a chemical called sialic acid. Many bacteria possess a special transport system...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

12V, 48V, high-voltage – trends in E/E automotive architecture

10.01.2017 | Event News

2nd Conference on Non-Textual Information on 10 and 11 May 2017 in Hannover

09.01.2017 | Event News

Nothing will happen without batteries making it happen!

05.01.2017 | Event News

 
Latest News

Water - as the underlying driver of the Earth’s carbon cycle

17.01.2017 | Earth Sciences

Interfacial Superconductivity: Magnetic and superconducting order revealed simultaneously

17.01.2017 | Materials Sciences

Smart homes will “LISTEN” to your voice

17.01.2017 | Architecture and Construction

VideoLinks
B2B-VideoLinks
More VideoLinks >>>