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.

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 July 31, 2014 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 July 31, 2014).

Share This




More Health & Medicine News

Thursday, July 31, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Health Insurers' Profits Slide

Health Insurers' Profits Slide

Reuters - Business Video Online (July 30, 2014) — Obamacare-related costs were said to be behind the profit plunge at Wellpoint and Humana, but Wellpoint sees the new exchanges boosting its earnings for the full year. Fred Katayama reports. Video provided by Reuters
Powered by NewsLook.com
Concern Grows Over Worsening Ebola Crisis

Concern Grows Over Worsening Ebola Crisis

AFP (July 30, 2014) — Pan-African airline ASKY has suspended all flights to and from the capitals of Liberia and Sierra Leone amid the worsening Ebola health crisis, which has so far caused 672 deaths in Guinea, Liberia and Sierra Leone. Duration: 00:43 Video provided by AFP
Powered by NewsLook.com
At Least 20 Chikungunya Cases in New Jersey

At Least 20 Chikungunya Cases in New Jersey

AP (July 30, 2014) — At least 20 New Jersey residents have tested positive for chikungunya, a mosquito-borne virus that has spread through the Caribbean. (July 30) Video provided by AP
Powered by NewsLook.com
Xtreme Eating: Your Daily Caloric Intake All On One Plate

Xtreme Eating: Your Daily Caloric Intake All On One Plate

Newsy (July 30, 2014) — The Center for Science in the Public Interest released its 2014 list of single meals with whopping calorie counts. Video provided by Newsy
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:
from the past week

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