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 New risk factors for anxiety disorders
24.02.2017 | Julius-Maximilians-Universität Würzburg

nachricht Stingless bees have their nests protected by soldiers
24.02.2017 | Johannes Gutenberg-Universität Mainz

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Breakthrough with a chain of gold atoms

In the field of nanoscience, an international team of physicists with participants from Konstanz has achieved a breakthrough in understanding heat transport

In the field of nanoscience, an international team of physicists with participants from Konstanz has achieved a breakthrough in understanding heat transport

Im Focus: DNA repair: a new letter in the cell alphabet

Results reveal how discoveries may be hidden in scientific “blind spots”

Cells need to repair damaged DNA in our genes to prevent the development of cancer and other diseases. Our cells therefore activate and send “repair-proteins”...

Im Focus: Dresdner scientists print tomorrow’s world

The Fraunhofer IWS Dresden and Technische Universität Dresden inaugurated their jointly operated Center for Additive Manufacturing Dresden (AMCD) with a festive ceremony on February 7, 2017. Scientists from various disciplines perform research on materials, additive manufacturing processes and innovative technologies, which build up components in a layer by layer process. This technology opens up new horizons for component design and combinations of functions. For example during fabrication, electrical conductors and sensors are already able to be additively manufactured into components. They provide information about stress conditions of a product during operation.

The 3D-printing technology, or additive manufacturing as it is often called, has long made the step out of scientific research laboratories into industrial...

Im Focus: Mimicking nature's cellular architectures via 3-D printing

Research offers new level of control over the structure of 3-D printed materials

Nature does amazing things with limited design materials. Grass, for example, can support its own weight, resist strong wind loads, and recover after being...

Im Focus: Three Magnetic States for Each Hole

Nanometer-scale magnetic perforated grids could create new possibilities for computing. Together with international colleagues, scientists from the Helmholtz Zentrum Dresden-Rossendorf (HZDR) have shown how a cobalt grid can be reliably programmed at room temperature. In addition they discovered that for every hole ("antidot") three magnetic states can be configured. The results have been published in the journal "Scientific Reports".

Physicist Dr. Rantej Bali from the HZDR, together with scientists from Singapore and Australia, designed a special grid structure in a thin layer of cobalt in...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Booth and panel discussion – The Lindau Nobel Laureate Meetings at the AAAS 2017 Annual Meeting

13.02.2017 | Event News

Complex Loading versus Hidden Reserves

10.02.2017 | Event News

International Conference on Crystal Growth in Freiburg

09.02.2017 | Event News

 
Latest News

Stingless bees have their nests protected by soldiers

24.02.2017 | Life Sciences

New risk factors for anxiety disorders

24.02.2017 | Life Sciences

MWC 2017: 5G Capital Berlin

24.02.2017 | Trade Fair News

VideoLinks
B2B-VideoLinks
More VideoLinks >>>