Featured Research

from universities, journals, and other organizations

Mutation In Renin Gene Linked To Inherited Kidney Disease

Date:
August 20, 2009
Source:
Wake Forest University Baptist Medical Center
Summary:
A mutation in a gene that helps regulate high blood pressure is a cause of inherited kidney disease, according to a new study.

A mutation in a gene that helps regulate high blood pressure is a cause of inherited kidney disease, according to a new study by researchers at Wake Forest University School of Medicine, Charles University in Prague and colleagues.

Related Articles


The discovery provides insight into a protein, renin, that is important in blood pressure regulation, and reveals the cause of one type of inherited kidney disease occurring in adults and children, said co-investigator Anthony Bleyer, M.D., professor of internal medicine-nephrology at the School of Medicine.

The study is now available online and in the Aug. 14 issue of American Journal of Human Genetics. While more than 25,000 articles have been written about renin, this is the first article to identify a mutation in the renin gene as a cause of kidney disease.

Renin is a key component of blood pressure regulation. When blood pressure drops, kidney cells detect the change and release renin into the blood stream, where it converts inactive forms of the hormone angiotensin into angiotensin I. With the help of a molecule in the lungs called angiotensin-converting enzyme (ACE), angiotensin I is then converted to a much more powerful hormone, called angiotensin II, which acts directly on blood vessels to cause blood pressure increases.

Because of the significant role renin plays, an entire class of medications used to treat high blood pressure, called ACE inhibitors, are dedicated to preventing blood pressure from rising by blocking the renin from activating angiotensin.

A genetic mutation in the gene that encodes renin was first identified as the cause of an hereditary kidney disease by a research group led by Stanislav Kmoch, Ph.D., at Charles University in Prague. Working with Kmoch and Suzanne Hart, Ph.D., at the National Institutes of Health, Bleyer identified the condition among American families in his study group of families with rare, inherited kidney disease. Bleyer works with about 100 families throughout the world to identify the causes of inherited kidney disease that run in their families.

Families identified with the specific genetic mutation investigated in this study suffer from anemia in childhood and progressive kidney disease resulting in the need for dialysis, a mechanical way to cleanse the blood. Children typically have relatively low blood pressure. Adults suffer from gout and worsening kidney disease.

"There are many families with inherited kidney disease that do not know the cause and may suffer from this condition," Bleyer said. "We are interested in helping these families identify the cause of kidney disease that runs in their family."

The investigators have identified a potential treatment for the disease, and a clinical trial is under way at Wake Forest University School of Medicine, Bleyer said.

Understanding how the mutation in the renin gene affects these families also provides insight into how renin works in healthy individuals. For example, the low levels of renin in children with this condition appear to cause anemia. The importance of renin in maintaining a normal blood count and preventing anemia in childhood was not previously known. The researchers plan to continue researching renin with hopes of better understanding how the protein functions in health and disease.

The research was conducted by physicians and researchers from the Czech Republic, Belgium, France, Germany and the United States.


Story Source:

The above story is based on materials provided by Wake Forest University Baptist Medical Center. Note: Materials may be edited for content and length.


Cite This Page:

Wake Forest University Baptist Medical Center. "Mutation In Renin Gene Linked To Inherited Kidney Disease." ScienceDaily. ScienceDaily, 20 August 2009. <www.sciencedaily.com/releases/2009/08/090818150029.htm>.
Wake Forest University Baptist Medical Center. (2009, August 20). Mutation In Renin Gene Linked To Inherited Kidney Disease. ScienceDaily. Retrieved December 19, 2014 from www.sciencedaily.com/releases/2009/08/090818150029.htm
Wake Forest University Baptist Medical Center. "Mutation In Renin Gene Linked To Inherited Kidney Disease." ScienceDaily. www.sciencedaily.com/releases/2009/08/090818150029.htm (accessed December 19, 2014).

Share This


More From ScienceDaily



More Health & Medicine News

Friday, December 19, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Kids Die While Under Protective Services

Kids Die While Under Protective Services

AP (Dec. 18, 2014) As part of a six-month investigation of child maltreatment deaths, the AP found that hundreds of deaths from horrific abuse and neglect could have been prevented. AP's Haven Daley reports. (Dec. 18) Video provided by AP
Powered by NewsLook.com
Dads-To-Be Also Experience Hormone Changes During Pregnancy

Dads-To-Be Also Experience Hormone Changes During Pregnancy

Newsy (Dec. 18, 2014) A study from University of Michigan researchers found that expectant fathers see a decrease in testosterone as the baby's birth draws near. Video provided by Newsy
Powered by NewsLook.com
Prenatal Exposure To Pollution Might Increase Autism Risk

Prenatal Exposure To Pollution Might Increase Autism Risk

Newsy (Dec. 18, 2014) Harvard researchers found children whose mothers were exposed to high pollution levels in the third trimester were twice as likely to develop autism. Video provided by Newsy
Powered by NewsLook.com
UN: Up to One Million Facing Hunger in Ebola-Hit Countries

UN: Up to One Million Facing Hunger in Ebola-Hit Countries

AFP (Dec. 17, 2014) Border closures, quarantines and crop losses in West African nations battling the Ebola virus could lead to as many as one million people going hungry, UN food agencies said on Wednesday. Duration: 00:52 Video provided by AFP
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