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 Show me your leaves - Health check for urban trees
12.12.2017 | Gesellschaft für Ökologie e.V.

nachricht Liver Cancer: Lipid Synthesis Promotes Tumor Formation
12.12.2017 | Universität Basel

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Long-lived storage of a photonic qubit for worldwide teleportation

MPQ scientists achieve long storage times for photonic quantum bits which break the lower bound for direct teleportation in a global quantum network.

Concerning the development of quantum memories for the realization of global quantum networks, scientists of the Quantum Dynamics Division led by Professor...

Im Focus: Electromagnetic water cloak eliminates drag and wake

Detailed calculations show water cloaks are feasible with today's technology

Researchers have developed a water cloaking concept based on electromagnetic forces that could eliminate an object's wake, greatly reducing its drag while...

Im Focus: Scientists channel graphene to understand filtration and ion transport into cells

Tiny pores at a cell's entryway act as miniature bouncers, letting in some electrically charged atoms--ions--but blocking others. Operating as exquisitely sensitive filters, these "ion channels" play a critical role in biological functions such as muscle contraction and the firing of brain cells.

To rapidly transport the right ions through the cell membrane, the tiny channels rely on a complex interplay between the ions and surrounding molecules,...

Im Focus: Towards data storage at the single molecule level

The miniaturization of the current technology of storage media is hindered by fundamental limits of quantum mechanics. A new approach consists in using so-called spin-crossover molecules as the smallest possible storage unit. Similar to normal hard drives, these special molecules can save information via their magnetic state. A research team from Kiel University has now managed to successfully place a new class of spin-crossover molecules onto a surface and to improve the molecule’s storage capacity. The storage density of conventional hard drives could therefore theoretically be increased by more than one hundred fold. The study has been published in the scientific journal Nano Letters.

Over the past few years, the building blocks of storage media have gotten ever smaller. But further miniaturization of the current technology is hindered by...

Im Focus: Successful Mechanical Testing of Nanowires

With innovative experiments, researchers at the Helmholtz-Zentrums Geesthacht and the Technical University Hamburg unravel why tiny metallic structures are extremely strong

Light-weight and simultaneously strong – porous metallic nanomaterials promise interesting applications as, for instance, for future aeroplanes with enhanced...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

See, understand and experience the work of the future

11.12.2017 | Event News

Innovative strategies to tackle parasitic worms

08.12.2017 | Event News

AKL’18: The opportunities and challenges of digitalization in the laser industry

07.12.2017 | Event News

 
Latest News

Long-lived storage of a photonic qubit for worldwide teleportation

12.12.2017 | Physics and Astronomy

Multi-year submarine-canyon study challenges textbook theories about turbidity currents

12.12.2017 | Earth Sciences

Electromagnetic water cloak eliminates drag and wake

12.12.2017 | Power and Electrical Engineering

VideoLinks
B2B-VideoLinks
More VideoLinks >>>