Featured Research

from universities, journals, and other organizations

Genetic defect disturbs salt handling and pushes up blood pressure levels: Gene responsible for hypertension identified

Date:
January 10, 2012
Source:
Max-Planck-Gesellschaft
Summary:
Hypertension is an endemic condition with far-reaching consequences. For instance, high blood pressure is the main cause of heart attacks and strokes. Other organs are also damaged by the chronic condition. Hypertension is attributed to a high salt intake and a genetic predisposition. Scientists have now discovered that even a normal salt intake can cause hypertension in people suffering from a sodium dysregulation. Researchers have managed to identify the responsible gene.

Microscopic cross section of a kidney. The image shows the organs filtration tubes, the so-called tubules. The cell walls of the tubules contain proteins, which are active as water transporter (green) and sodium transporters (red). The cell nuclei are highlighted in blue.
Credit: © MPI for Heart and Lung Research

Hypertension is an endemic condition with far-reaching consequences. For instance, high blood pressure is the main cause of heart attacks and strokes. Other organs are also damaged by the chronic condition. Hypertension is attributed to a high salt intake and a genetic predisposition. Scientists from the Max Planck Institute for Heart and Lung Research in Bad Nauheim have now discovered that even a normal salt intake can cause hypertension in people suffering from a sodium dysregulation. Researchers have managed to identify the responsible gene.

Related Articles


The regulation of blood pressure is highly complex. The blood pressure level is first and foremost determined by the blood volume. The more blood is circulated in the body, the higher the blood pressure. The 'control centre' is located in the kidneys: Here, blood volume and, in turn, blood pressure, are regulated by renal excretion of water and sodium. To do this, the kidneys receive information from arterial pressure receptors, the autonomic nervous system and different hormones.

The research group headed by Thomas Böttger from the Max Planck Institute for Heart and Lung Research in Bad Nauheim has looked closer at the gene SLC4A5. This gene encodes a protein that transports certain ions (salt compounds), thereby preventing an excessive concentration of salt in the blood. The scientists were able to prove that a defect in this particular gene causes excessive renal retention of sodium and water. This leads to an abnormal increase in blood pressure. "Through studies of large series of patients, many genes have been identified that could be associated with hypertension. However, their specific roles were often not clear," Böttger says.

The scientists in Bad Nauheimer managed to corner the gene when studying mutant mice in which the gene had been specifically inactivated. The so-called "knockout mice" suffered from hypertension. Although various compensatory mechanisms had been activated in the mice, the sodium concentration and blood pressure remained permanently high in these mice. "This shows that we have indeed discovered an important gene for blood pressure regulation in SLC4A5," Böttger says. The study of the knockout mice largely contributed to the result. It actually enabled the scientists to closely investigate the mechanisms that cause high blood pressure. In previous studies of human genetics, SLC4A5 was only known as one of many candidate genes.

The Max Planck scientists hope that they have found a new approach to treating hypertension more effectively. "First, we must investigate in which percentage of patients hypertension is caused by the SLC4A5 gene," Böttger says. Any potential treatment depends on this. "If it is possible to re-establish the regulation of sodium in these patients, we could bring the blood pressure back to normal levels."


Story Source:

The above story is based on materials provided by Max-Planck-Gesellschaft. Note: Materials may be edited for content and length.


Journal Reference:

  1. N. Groger, H. Vitzthum, H. Frohlich, M. Kruger, H. Ehmke, T. Braun, T. Boettger. Targeted mutation of SLC4A5 induces arterial hypertension and renal metabolic acidosis. Human Molecular Genetics, 2011; DOI: 10.1093/hmg/ddr533

Cite This Page:

Max-Planck-Gesellschaft. "Genetic defect disturbs salt handling and pushes up blood pressure levels: Gene responsible for hypertension identified." ScienceDaily. ScienceDaily, 10 January 2012. <www.sciencedaily.com/releases/2011/11/111128120546.htm>.
Max-Planck-Gesellschaft. (2012, January 10). Genetic defect disturbs salt handling and pushes up blood pressure levels: Gene responsible for hypertension identified. ScienceDaily. Retrieved November 23, 2014 from www.sciencedaily.com/releases/2011/11/111128120546.htm
Max-Planck-Gesellschaft. "Genetic defect disturbs salt handling and pushes up blood pressure levels: Gene responsible for hypertension identified." ScienceDaily. www.sciencedaily.com/releases/2011/11/111128120546.htm (accessed November 23, 2014).

Share This


More From ScienceDaily



More Health & Medicine News

Sunday, November 23, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

WFP: Ebola Risks Heightened Among Women Throughout Africa

WFP: Ebola Risks Heightened Among Women Throughout Africa

AFP (Nov. 21, 2014) — Having children has always been a frightening prospect in Sierra Leone, the world's most dangerous place to give birth, but Ebola has presented an alarming new threat for expectant mothers. Duration: 00:37 Video provided by AFP
Powered by NewsLook.com
Could Your Genes Be The Reason You're Single?

Could Your Genes Be The Reason You're Single?

Newsy (Nov. 21, 2014) — Researchers in Beijing discovered a gene called 5-HTA1, and carriers are reportedly 20 percent more likely to be single. Video provided by Newsy
Powered by NewsLook.com
Raw: Paralyzed Marine Walks With Robotic Braces

Raw: Paralyzed Marine Walks With Robotic Braces

AP (Nov. 21, 2014) — Marine Corps officials say a special operations officer left paralyzed by a sniper's bullet in Afghanistan walked using robotic leg braces in a ceremony to award him a Bronze Star. (Nov. 21) Video provided by AP
Powered by NewsLook.com
Milestone Birthdays Can Bring Existential Crisis, Study Says

Milestone Birthdays Can Bring Existential Crisis, Study Says

Newsy (Nov. 21, 2014) — Researchers find that as people approach new decades in their lives they make bigger life decisions. 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