Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Identification of a gene mutated in a hereditary form of rickets

20.10.2006
Scientists from the GSF - National Research Center for Environment and Health have identified mutations causing a specific form of hereditary rickets due to phosphate deficiency.

As a team of scientists led by the human geneticist Tim Strom reports in the November issue of Nature Genetics, mutations were identified in the DMP1 gene, which is responsible for the production of dentin matrix protein 1. The protein is mainly expressed in the bone matrix. If mutated, phosphate is lost via the kidney resulting in hypophosphatemia and rickets. “Since rickets due to vitamin D deficiency has become rare in children because of vitamin D supplementation, a large proportion of the cases with rickets are nowadays caused by hypophosphatemia,” Dr. Strom explained. Both phosphate and calcium are minerals, which we take up with our daily diet and which are necessary for bone mineralization.

Deficiency of these minerals leads to rickets characterized by softening of the bones resulting in bowleg or knock-knee. The scientists have been investigating the genetic defects leading to hypophosphatemic rickets for several years and have found mutations in different genes. DMP1 mutations were now identified by studying a family suggesting autosomal recessive inheritance, while the known gene defects are inherited in an autosomal dominant or X-linked mode.

“Since mutations in several genes lead to hypophosphatemia, we assume that there is a metabolic pathway which is responsible for the regulation of phosphate homeostasis and which the mutations interfere with. Further research will show how the bone is linked with renal phosphate reabsorption,“ said Dr. Strom, „and once the molecular processes are elucidated, new therapeutic possibilities may open up.“

Michael van den Heuvel | alfa
Further information:
http://www.gsf.de/neu/Aktuelles/Presse/2006/rachitis_en.php

Further reports about: hereditary hypophosphatemia mutations phosphate

More articles from Life Sciences:

nachricht Researchers identify potentially druggable mutant p53 proteins that promote cancer growth
09.12.2016 | Cold Spring Harbor Laboratory

nachricht Plant-based substance boosts eyelash growth
09.12.2016 | Fraunhofer-Institut für Angewandte Polymerforschung IAP

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Electron highway inside crystal

Physicists of the University of Würzburg have made an astonishing discovery in a specific type of topological insulators. The effect is due to the structure of the materials used. The researchers have now published their work in the journal Science.

Topological insulators are currently the hot topic in physics according to the newspaper Neue Zürcher Zeitung. Only a few weeks ago, their importance was...

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...

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

Researchers identify potentially druggable mutant p53 proteins that promote cancer growth

09.12.2016 | Life Sciences

Scientists produce a new roadmap for guiding development & conservation in the Amazon

09.12.2016 | Ecology, The Environment and Conservation

Satellites, airport visibility readings shed light on troops' exposure to air pollution

09.12.2016 | Health and Medicine

VideoLinks
B2B-VideoLinks
More VideoLinks >>>