Featured Research

from universities, journals, and other organizations

New Mutation That Causes Rare Kidney Disease Identified

Date:
November 2, 2006
Source:
Public Library of Science
Summary:
Researchers from the University of Newcastle, UK, have identified a novel genetic change that causes one form of atypical hemolytic uremic syndrome (aHUS) a rare, chronic disease that causes kidney failure and which can run in families.

Researchers from the University of Newcastle, UK, have identified a novel genetic change that causes one form of atypical hemolytic uremic syndrome (aHUS) a rare, chronic disease that causes kidney failure and which can run in families.

Related Articles


Previous work has shown the involvement in this syndrome of a protein called "factor H," one of a number of proteins produced in the liver, which are involved in the control of the complement system-one of the systems that controls the body's defenses against infection.

The researchers, led by Tim Goodship, studied one family, several of whose members had aHUS but with no previously identified mutation. They identified a hybrid gene which codes for a protein product identical to one previously described in association with aHUS.

The mutation these researchers identified is likely to result in development of aHUS that does not get better after a kidney transplant, because the abnormal factor H would still be produced in the liver after a transplant had been done. The researchers suggest that patients with aHUS be checked for this particular mutation before it is decided whether to go ahead with a transplant.

A related perspective by Giuseppe Remuzzi and Marina Noris from the Instituto Mario Negri, further discusses the implications of this finding.

Citation: Venables JP, Strain L, Routledge D, Bourn D, Powell HM, et al. (2006) Atypical haemolytic uraemic syndrome associated with a hybrid complement gene. PLoS Med 3(10): e431 (http://dx.doi.org/10.1371/journal.pmed.0030431)


Story Source:

The above story is based on materials provided by Public Library of Science. Note: Materials may be edited for content and length.


Cite This Page:

Public Library of Science. "New Mutation That Causes Rare Kidney Disease Identified." ScienceDaily. ScienceDaily, 2 November 2006. <www.sciencedaily.com/releases/2006/10/061031192509.htm>.
Public Library of Science. (2006, November 2). New Mutation That Causes Rare Kidney Disease Identified. ScienceDaily. Retrieved March 5, 2015 from www.sciencedaily.com/releases/2006/10/061031192509.htm
Public Library of Science. "New Mutation That Causes Rare Kidney Disease Identified." ScienceDaily. www.sciencedaily.com/releases/2006/10/061031192509.htm (accessed March 5, 2015).

Share This


More From ScienceDaily



More Health & Medicine News

Thursday, March 5, 2015

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Doctor in Your Pocket Is Getting Smarter

Doctor in Your Pocket Is Getting Smarter

Reuters - Business Video Online (Mar. 5, 2015) Mobile apps are turning smartphones into a personal doctors, with users able to measure heart rate, blood pressure and even blood sugar. But will it change our behaviour? Ivor Bennett reports from the Mobile World Congress in Barcelona. Video provided by Reuters
Powered by NewsLook.com
AbbVie Inks $21B Deal To Buy Cancer Drugmaker Pharmacyclics

AbbVie Inks $21B Deal To Buy Cancer Drugmaker Pharmacyclics

Newsy (Mar. 5, 2015) AbbVie announced Wednesday it will buy cancer drugmaker Pharmacyclics in a $21 billion deal. Video provided by Newsy
Powered by NewsLook.com
Adults Only Get The Flu Twice A Decade, Researchers Say

Adults Only Get The Flu Twice A Decade, Researchers Say

Newsy (Mar. 4, 2015) Researchers found adults only get the flu about once every five years. Scientists analyzed how a person&apos;s immunity builds up over time as well. Video provided by Newsy
Powered by NewsLook.com
Obamacare's Strange New Supreme Court Case

Obamacare's Strange New Supreme Court Case

Newsy (Mar. 4, 2015) President Obama&apos;s healthcare law is facing its second Supreme Court challenge, and it hinges on a single sentence. 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:

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