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 Scientists spin artificial silk from whey protein
24.01.2017 | Deutsches Elektronen-Synchrotron DESY

nachricht Choreographing the microRNA-target dance
24.01.2017 | UT Southwestern Medical Center

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Scientists spin artificial silk from whey protein

X-ray study throws light on key process for production

A Swedish-German team of researchers has cleared up a key process for the artificial production of silk. With the help of the intense X-rays from DESY's...

Im Focus: Quantum optical sensor for the first time tested in space – with a laser system from Berlin

For the first time ever, a cloud of ultra-cold atoms has been successfully created in space on board of a sounding rocket. The MAIUS mission demonstrates that quantum optical sensors can be operated even in harsh environments like space – a prerequi-site for finding answers to the most challenging questions of fundamental physics and an important innovation driver for everyday applications.

According to Albert Einstein's Equivalence Principle, all bodies are accelerated at the same rate by the Earth's gravity, regardless of their properties. This...

Im Focus: Traffic jam in empty space

New success for Konstanz physicists in studying the quantum vacuum

An important step towards a completely new experimental access to quantum physics has been made at University of Konstanz. The team of scientists headed by...

Im Focus: How gut bacteria can make us ill

HZI researchers decipher infection mechanisms of Yersinia and immune responses of the host

Yersiniae cause severe intestinal infections. Studies using Yersinia pseudotuberculosis as a model organism aim to elucidate the infection mechanisms of these...

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...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Sustainable Water use in Agriculture in Eastern Europe and Central Asia

19.01.2017 | 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

 
Latest News

Breaking the optical bandwidth record of stable pulsed lasers

24.01.2017 | Physics and Astronomy

Choreographing the microRNA-target dance

24.01.2017 | Life Sciences

Spanish scientists create a 3-D bioprinter to print human skin

24.01.2017 | Health and Medicine

VideoLinks
B2B-VideoLinks
More VideoLinks >>>