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 Newly discovered bacteria-binding protein in the intestine
08.12.2016 | University of Gothenburg

nachricht The balancing act: An enzyme that links endocytosis to membrane recycling
07.12.2016 | National Centre for Biological Sciences

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Significantly more productivity in USP lasers

In recent years, lasers with ultrashort pulses (USP) down to the femtosecond range have become established on an industrial scale. They could advance some applications with the much-lauded “cold ablation” – if that meant they would then achieve more throughput. A new generation of process engineering that will address this issue in particular will be discussed at the “4th UKP Workshop – Ultrafast Laser Technology” in April 2017.

Even back in the 1990s, scientists were comparing materials processing with nanosecond, picosecond and femtosesecond pulses. The result was surprising:...

Im Focus: Shape matters when light meets atom

Mapping the interaction of a single atom with a single photon may inform design of quantum devices

Have you ever wondered how you see the world? Vision is about photons of light, which are packets of energy, interacting with the atoms or molecules in what...

Im Focus: Novel silicon etching technique crafts 3-D gradient refractive index micro-optics

A multi-institutional research collaboration has created a novel approach for fabricating three-dimensional micro-optics through the shape-defined formation of porous silicon (PSi), with broad impacts in integrated optoelectronics, imaging, and photovoltaics.

Working with colleagues at Stanford and The Dow Chemical Company, researchers at the University of Illinois at Urbana-Champaign fabricated 3-D birefringent...

Im Focus: Quantum Particles Form Droplets

In experiments with magnetic atoms conducted at extremely low temperatures, scientists have demonstrated a unique phase of matter: The atoms form a new type of quantum liquid or quantum droplet state. These so called quantum droplets may preserve their form in absence of external confinement because of quantum effects. The joint team of experimental physicists from Innsbruck and theoretical physicists from Hannover report on their findings in the journal Physical Review X.

“Our Quantum droplets are in the gas phase but they still drop like a rock,” explains experimental physicist Francesca Ferlaino when talking about the...

Im Focus: MADMAX: Max Planck Institute for Physics takes up axion research

The Max Planck Institute for Physics (MPP) is opening up a new research field. A workshop from November 21 - 22, 2016 will mark the start of activities for an innovative axion experiment. Axions are still only purely hypothetical particles. Their detection could solve two fundamental problems in particle physics: What dark matter consists of and why it has not yet been possible to directly observe a CP violation for the strong interaction.

The “MADMAX” project is the MPP’s commitment to axion research. Axions are so far only a theoretical prediction and are difficult to detect: on the one hand,...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

ICTM Conference 2017: Production technology for turbomachine manufacturing of the future

16.11.2016 | Event News

Innovation Day Laser Technology – Laser Additive Manufacturing

01.11.2016 | Event News

#IC2S2: When Social Science meets Computer Science - GESIS will host the IC2S2 conference 2017

14.10.2016 | Event News

 
Latest News

Will Earth still exist 5 billion years from now?

08.12.2016 | Physics and Astronomy

Oxygen can wake up dormant bacteria for antibiotic attacks

08.12.2016 | Health and Medicine

Newly discovered bacteria-binding protein in the intestine

08.12.2016 | Life Sciences

VideoLinks
B2B-VideoLinks
More VideoLinks >>>