Featured Research

from universities, journals, and other organizations

Nephrology: New gene linked to kidney disease

Date:
March 5, 2010
Source:
Journal of Clinical Investigation
Summary:
Nephronophthisis (NPHP) is the most common genetic cause of kidney failure in children. Ten causative genes (NPHP1-NPHP9 and NPHP11), all of which generate proteins that localize to a cellular complex known as the primary cilia-centrosome complex, have been identified previously. A team of researchers has now identified an association between mutations in the XPNPEP3 gene and an NPHP-like nephropathy in two consanguineous families, one in northern Finland and one in Turkey.

Nephronophthisis (NPHP) is the most common genetic cause of kidney failure in children. Ten causative genes (NPHP1-NPHP9 and NPHP11), all of which generate proteins that localize to a cellular complex known as the primary cilia-centrosome complex, have been identified previously.

A team of researchers, at the University of Michigan Health System, Ann Arbor, and Duke University Medical Center, Durham, has now identified an association between mutations in the XPNPEP3 gene and an NPHP-like nephropathy in two consanguineous families, one in northern Finland and one in Turkey.

Unlike all the known NPHP proteins, XPNPEP3 protein localizes to cellular compartments known as mitochondria. However, in vivo analysis in zebrafish indicated that XPNPEP3 protein has a role in ciliary function, as it degraded several ciliary cystogenic proteins.

The authors therefore conclude that there is a link between mitochondria and ciliary dysfunction, a key component of NPHP. As highlighted by Erwin Bφttinger, at Mount Sinai School of Medicine, New York, these data provide exciting new avenues of research for understanding ciliopathies, genetic disorders caused by damage to cellular structures known as primary cilia.

The research appears in the Journal of Clinical Investigation.


Story Source:

The above story is based on materials provided by Journal of Clinical Investigation. Note: Materials may be edited for content and length.


Journal References:

  1. O'Toole et al. Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. Journal of Clinical Investigation, 2010; DOI: 10.1172/JCI40076
  2. Erwin P. Bφttinger. Lights on for aminopeptidases in cystic kidney disease. Journal of Clinical Investigation, 2010; DOI: 10.1172/JCI42378

Cite This Page:

Journal of Clinical Investigation. "Nephrology: New gene linked to kidney disease." ScienceDaily. ScienceDaily, 5 March 2010. <www.sciencedaily.com/releases/2010/02/100222213128.htm>.
Journal of Clinical Investigation. (2010, March 5). Nephrology: New gene linked to kidney disease. ScienceDaily. Retrieved September 20, 2014 from www.sciencedaily.com/releases/2010/02/100222213128.htm
Journal of Clinical Investigation. "Nephrology: New gene linked to kidney disease." ScienceDaily. www.sciencedaily.com/releases/2010/02/100222213128.htm (accessed September 20, 2014).

Share This



More Health & Medicine News

Saturday, September 20, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Sierra Leone's Nationwide Ebola Curfew Underway

Sierra Leone's Nationwide Ebola Curfew Underway

Newsy (Sep. 20, 2014) — Sierra Leone is locked down as aid workers and volunteers look for new cases of Ebola. Video provided by Newsy
Powered by NewsLook.com
Changes Found In Brain After One Dose Of Antidepressants

Changes Found In Brain After One Dose Of Antidepressants

Newsy (Sep. 19, 2014) — A study suggest antidepressants can kick in much sooner than previously thought. Video provided by Newsy
Powered by NewsLook.com
Could Grief Affect The Immune Systems Of Senior Citizens?

Could Grief Affect The Immune Systems Of Senior Citizens?

Newsy (Sep. 19, 2014) — The study found elderly people are much more likely to become susceptible to infection than younger adults going though a similar situation. Video provided by Newsy
Powered by NewsLook.com
Jury Delivers Verdict in Salmonella Trial

Jury Delivers Verdict in Salmonella Trial

AP (Sep. 19, 2014) — A federal jury has convicted three people in connection with an outbreak of salmonella poisoning five years ago that sickened hundreds of people and was linked to a number of deaths. (Sept. 19) Video provided by AP
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