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
A Map of the Cell’s Power Station
18.08.2017 | Albert-Ludwigs-Universität Freiburg im Breisgau
On the way to developing a new active ingredient against chronic infections
18.08.2017 | Deutsches Zentrum für Infektionsforschung
Whether you call it effervescent, fizzy, or sparkling, carbonated water is making a comeback as a beverage. Aside from quenching thirst, researchers at the University of Illinois at Urbana-Champaign have discovered a new use for these "bubbly" concoctions that will have major impact on the manufacturer of the world's thinnest, flattest, and one most useful materials -- graphene.
As graphene's popularity grows as an advanced "wonder" material, the speed and quality at which it can be manufactured will be paramount. With that in mind,...
Physicists at the University of Bonn have managed to create optical hollows and more complex patterns into which the light of a Bose-Einstein condensate flows. The creation of such highly low-loss structures for light is a prerequisite for complex light circuits, such as for quantum information processing for a new generation of computers. The researchers are now presenting their results in the journal Nature Photonics.
Light particles (photons) occur as tiny, indivisible portions. Many thousands of these light portions can be merged to form a single super-photon if they are...
For the first time, scientists have shown that circular RNA is linked to brain function. When a RNA molecule called Cdr1as was deleted from the genome of mice, the animals had problems filtering out unnecessary information – like patients suffering from neuropsychiatric disorders.
While hundreds of circular RNAs (circRNAs) are abundant in mammalian brains, one big question has remained unanswered: What are they actually good for? In the...
An experimental small satellite has successfully collected and delivered data on a key measurement for predicting changes in Earth's climate.
The Radiometer Assessment using Vertically Aligned Nanotubes (RAVAN) CubeSat was launched into low-Earth orbit on Nov. 11, 2016, in order to test new...
A study led by scientists of the Max Planck Institute for the Structure and Dynamics of Matter (MPSD) at the Center for Free-Electron Laser Science in Hamburg presents evidence of the coexistence of superconductivity and “charge-density-waves” in compounds of the poorly-studied family of bismuthates. This observation opens up new perspectives for a deeper understanding of the phenomenon of high-temperature superconductivity, a topic which is at the core of condensed matter research since more than 30 years. The paper by Nicoletti et al has been published in the PNAS.
Since the beginning of the 20th century, superconductivity had been observed in some metals at temperatures only a few degrees above the absolute zero (minus...
16.08.2017 | Event News
04.08.2017 | Event News
26.07.2017 | Event News
18.08.2017 | Life Sciences
18.08.2017 | Physics and Astronomy
18.08.2017 | Materials Sciences