By analysing genetic data from 175,000 people around the world, geneticists at the European Academy of Bolzano (EURAC), heading up the international consortium CKDGen, have now discovered and distinguished 53 genes related to kidney functionality and development. These findings represent an important step in creating an ‘ID card’ for the organ responsible for purifying our blood, while opening up new perspectives for the treatment of kidney failure.
Chronic kidney disease is a serious global health problem. In Italy alone some 3.5 million people suffer from the condition, which in severe cases can lead to dependency on dialysis or even death (10% of the population is likely to be affected throughout their lives). This disease depends upon a number of factors, ranging from diet to lifestyle as well as genetic predisposition.
A recently-published study in Nature Communications, co-ordinated by Cristian Pattaro, researcher at the European Academy of Bolzano (EURAC) and Caroline Fox from the Harvard Medical School of Boston, USA, now helps shed light on our knowledge of the kidney.
The researchers have discovered and distinguished 53 genes associated with its functionality (its ability to filter metabolic wastes from the blood) and with the development of the organ itself. To achieve this, the geneticists who authored the study examined a huge quantity of data from 175,000 people around the world.
The data were provided by CKDGen (CKD = chronic kidney disease), an international consortium founded in 2009 that consists of some 60 studies in 15 countries worldwide, with EURAC as one of its co-ordinating centres.
“Thanks to the work of the team and the very large amount of data, we were able to conduct extensive bioinformatic analyses. Step by step we are creating a genetic ID card for the kidney,” explains Pattaro “It is a complicated puzzle, but slowly the overall picture is becoming clearer.”
The work will now continue by studying the role of every single gene in detail. For example, it was found that one of the 53 genes catalogued is associated with the ability of the kidney to effectively filter wastes from the blood. The gene can take different forms in different individuals, corresponding to a greater or lesser filtering capacity. Could a malfunction in this feature cause problems for our bodies?
“No gene mutation is in itself lethal, but it may slightly help or hinder the correct function of the kidney,” says Pattaro.
The detailed study of the 53 genes discovered adds new pieces to the complex picture of renal disease, while allowing the identification of the genetic mutations that are especially involved and active in the pathology. Such basic research may in future open new horizons for the development of targeted gene therapies for healthy kidneys.
Stefanie Gius | idw - Informationsdienst Wissenschaft
127 at one blow...
18.01.2017 | Stiftung Zoologisches Forschungsmuseum Alexander Koenig, Leibniz-Institut für Biodiversität der Tiere
How gut bacteria can make us ill
18.01.2017 | Helmholtz-Zentrum für Infektionsforschung
Yersiniae cause severe intestinal infections. Studies using Yersinia pseudotuberculosis as a model organism aim to elucidate the infection mechanisms of these...
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...
Laser-driving of semimetals allows creating novel quasiparticle states within condensed matter systems and switching between different states on ultrafast time scales
Studying properties of fundamental particles in condensed matter systems is a promising approach to quantum field theory. Quasiparticles offer the opportunity...
Among the general public, solar thermal energy is currently associated with dark blue, rectangular collectors on building roofs. Technologies are needed for aesthetically high quality architecture which offer the architect more room for manoeuvre when it comes to low- and plus-energy buildings. With the “ArKol” project, researchers at Fraunhofer ISE together with partners are currently developing two façade collectors for solar thermal energy generation, which permit a high degree of design flexibility: a strip collector for opaque façade sections and a solar thermal blind for transparent sections. The current state of the two developments will be presented at the BAU 2017 trade fair.
As part of the “ArKol – development of architecturally highly integrated façade collectors with heat pipes” project, Fraunhofer ISE together with its partners...
At TU Wien, an alternative for resource intensive formwork for the construction of concrete domes was developed. It is now used in a test dome for the Austrian Federal Railways Infrastructure (ÖBB Infrastruktur).
Concrete shells are efficient structures, but not very resource efficient. The formwork for the construction of concrete domes alone requires a high amount of...
10.01.2017 | Event News
09.01.2017 | Event News
05.01.2017 | Event News
18.01.2017 | Materials Sciences
18.01.2017 | Information Technology
18.01.2017 | Ecology, The Environment and Conservation