Featured Research

from universities, journals, and other organizations

Cause of cystic kidneys explained: Novel gene responsible for cystic kidney disease in children identified

Date:
September 5, 2013
Source:
Albert-Ludwigs-Universität Freiburg
Summary:
Scientists have identified a new gene that causes cystic kidneys in children and young adults. The research group's results lead to the identification of novel insights into the molecular mechanism underlying NPH, which is a prerequisite for developing pharmacological targets and new therapies for children with nephronophthisis.

Sylvia Hoff, a graduate student from the Spemann Graduate School of Biology and Medicine (SGBM), has identified a new gene that causes cystic kidneys in children and young adults. The work by the PhD student Sylvia Hoff and her international collaboration partners was published in the scientific journal Nature Genetics. The research group's results lead to the identification of novel insights into the molecular mechanism underlying NPH, which is a prerequisite for developing pharmacological targets and new therapies for children with nephronophthisis.

Related Articles


Nephronophthisis (NPH) is the most common inherited kidney disease that leads to renal failure in children. The kidneys of affected children develop cysts, and as there is no approved therapy yet, patients need dialysis and renal transplantation. In addition, NPH often affects other organs apart from the kidney, such as the eyes, the liver, or the brain.

The PhD student Sylvia Hoff, together with Dr. Soeren Lienkamp of the Nephrology Department at the Freiburg University Medical Center headed by Prof. Gerd Walz, analyzed the function of NPH proteins during early developmental processes. They found that the ANKS6 protein has functions similar to those of some of the known NPH proteins. In collaboration with research groups in France, USA, Denmark, Switzerland, Egypt, the Netherlands, and Germany, they succeeded in identifying mutations in the ANKS6 gene of children with NPH. This confirmed that ANKS6 is a novel NPH-disease gene. The patients suffered from early onset cystic kidney disease and structural heart abnormalities.

Further analysis revealed that ANKS6 also forms a protein network with three other NPH proteins (INVS, NPHP3, and NEK8) at the cilium, a hair-like structure on the surface of many cells. The formation of this network is regulated by the enzyme HIF1AN. This is the first time that the assembly of NPH proteins has been described as a dynamic process. Thus, the finding sheds some light on how the binding of multiple NPH proteins can be regulated.

This can serve as a basis for investigating the function of NPH protein groups in kidney cells, which will improve our understanding of the disease on the cellular level.


Story Source:

The above story is based on materials provided by Albert-Ludwigs-Universität Freiburg. Note: Materials may be edited for content and length.


Journal Reference:

  1. Sylvia Hoff, Jan Halbritter, Daniel Epting, Valeska Frank, Thanh-Minh T Nguyen, Jeroen van Reeuwijk, Christopher Boehlke, Christoph Schell, Takayuki Yasunaga, Martin Helmstädter, Miriam Mergen, Emilie Filhol, Karsten Boldt, Nicola Horn, Marius Ueffing, Edgar A Otto, Tobias Eisenberger, Mariet W Elting, Joanna A E van Wijk, Detlef Bockenhauer, Neil J Sebire, Søren Rittig, Mogens Vyberg, Troels Ring, Martin Pohl, Lars Pape, Thomas J Neuhaus, Neveen A Soliman Elshakhs, Sarah J Koon, Peter C Harris, Florian Grahammer, Tobias B Huber, E Wolfgang Kuehn, Albrecht Kramer-Zucker, Hanno J Bolz, Ronald Roepman, Sophie Saunier, Gerd Walz, Friedhelm Hildebrandt, Carsten Bergmann, Soeren S Lienkamp. ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. Nature Genetics, 2013; 45 (8): 951 DOI: 10.1038/ng.2681

Cite This Page:

Albert-Ludwigs-Universität Freiburg. "Cause of cystic kidneys explained: Novel gene responsible for cystic kidney disease in children identified." ScienceDaily. ScienceDaily, 5 September 2013. <www.sciencedaily.com/releases/2013/09/130905085739.htm>.
Albert-Ludwigs-Universität Freiburg. (2013, September 5). Cause of cystic kidneys explained: Novel gene responsible for cystic kidney disease in children identified. ScienceDaily. Retrieved January 31, 2015 from www.sciencedaily.com/releases/2013/09/130905085739.htm
Albert-Ludwigs-Universität Freiburg. "Cause of cystic kidneys explained: Novel gene responsible for cystic kidney disease in children identified." ScienceDaily. www.sciencedaily.com/releases/2013/09/130905085739.htm (accessed January 31, 2015).

Share This


More From ScienceDaily



More Health & Medicine News

Saturday, January 31, 2015

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

CDC: Get Vaccinated for Measles

CDC: Get Vaccinated for Measles

Reuters - US Online Video (Jan. 30, 2015) — The CDC is urging people to get vaccinated for measles amid an outbreak that began at Disneyland and has now infected more than 90 people. Linda So reports. Video provided by Reuters
Powered by NewsLook.com
Obama To Outline New Plan For Personalized Medicine

Obama To Outline New Plan For Personalized Medicine

Newsy (Jan. 30, 2015) — President Obama is expected to speak with drugmakers Friday about his Precision Medicine Initiative first introduced last week. Video provided by Newsy
Powered by NewsLook.com
NFL Concussions Down; Still on Parents' Minds

NFL Concussions Down; Still on Parents' Minds

AP (Jan. 30, 2015) — The NFL announced this week that the number of game concussions dropped by a quarter over last season. Still, the dangers of the sport still weigh on players, and parents&apos; minds. (Jan. 30) Video provided by AP
Powered by NewsLook.com
U.S. Wants to Analyze DNA from 1 Million People

U.S. Wants to Analyze DNA from 1 Million People

Reuters - US Online Video (Jan. 30, 2015) — The U.S. has proposed analyzing genetic information from more than 1 million American volunteers to learn how genetic variants affect health and disease. Rough Cut (no reporter narration). Video provided by Reuters
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
 
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:  

Breaking News:

Strange & Offbeat Stories

 

Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:  

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile iPhone Android Web
Follow Facebook Twitter Google+
Subscribe RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins