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
Building a brain, cell by cell: Researchers make a mini neuron network (of two)
23.05.2018 | Institute of Industrial Science, The University of Tokyo
Research reveals how order first appears in liquid crystals
23.05.2018 | Brown University
At the LASYS 2018, from June 5th to 7th, the Laser Zentrum Hannover e.V. (LZH) will be showcasing processes for the laser material processing of tomorrow in hall 4 at stand 4E75. With blown bomb shells the LZH will present first results of a research project on civil security.
At this year's LASYS, the LZH will exhibit light-based processes such as cutting, welding, ablation and structuring as well as additive manufacturing for...
There are videos on the internet that can make one marvel at technology. For example, a smartphone is casually bent around the arm or a thin-film display is rolled in all directions and with almost every diameter. From the user's point of view, this looks fantastic. From a professional point of view, however, the question arises: Is that already possible?
At Display Week 2018, scientists from the Fraunhofer Institute for Applied Polymer Research IAP will be demonstrating today’s technological possibilities and...
So-called quantum many-body scars allow quantum systems to stay out of equilibrium much longer, explaining experiment | Study published in Nature Physics
Recently, researchers from Harvard and MIT succeeded in trapping a record 53 atoms and individually controlling their quantum state, realizing what is called a...
The historic first detection of gravitational waves from colliding black holes far outside our galaxy opened a new window to understanding the universe. A...
A team led by Austrian experimental physicist Rainer Blatt has succeeded in characterizing the quantum entanglement of two spatially separated atoms by observing their light emission. This fundamental demonstration could lead to the development of highly sensitive optical gradiometers for the precise measurement of the gravitational field or the earth's magnetic field.
The age of quantum technology has long been heralded. Decades of research into the quantum world have led to the development of methods that make it possible...
02.05.2018 | Event News
13.04.2018 | Event News
12.04.2018 | Event News
23.05.2018 | Life Sciences
23.05.2018 | Life Sciences
23.05.2018 | Physics and Astronomy