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
Molecular doorstop could be key to new tuberculosis drugs
20.03.2018 | Rockefeller University
Modified biomaterials self-assemble on temperature cues
20.03.2018 | Duke University
A new scenario seeking to explain how Mars' putative oceans came and went over the last 4 billion years implies that the oceans formed several hundred million...
For the first time, an interdisciplinary team from the University of Basel has succeeded in integrating artificial organelles into the cells of live zebrafish embryos. This innovative approach using artificial organelles as cellular implants offers new potential in treating a range of diseases, as the authors report in an article published in Nature Communications.
In the cells of higher organisms, organelles such as the nucleus or mitochondria perform a range of complex functions necessary for life. In the networks of...
Animal photoreceptors capture light with photopigments. Researchers from the University of Göttingen have now discovered that these photopigments fulfill an...
On 15 March, the AWI research aeroplane Polar 5 will depart for Greenland. Concentrating on the furthest northeast region of the island, an international team...
The world’s second-largest ice shelf was the destination for a Polarstern expedition that ended in Punta Arenas, Chile on 14th March 2018. Oceanographers from...
19.03.2018 | Event News
16.03.2018 | Event News
13.03.2018 | Event News
20.03.2018 | Physics and Astronomy
20.03.2018 | Physics and Astronomy
20.03.2018 | Earth Sciences