Featured Research

from universities, journals, and other organizations

New Gene Linked To Low Levels Of Magnesium

Date:
March 28, 2009
Source:
Journal of Clinical Investigation
Summary:
A small number of individuals have genetic mutations that cause them to have very low levels of magnesium, which can cause altered heart beats, seizures, and involuntary muscle contraction.

A small number of individuals have genetic mutations that cause them to have very low levels of magnesium (Mg2+), which can cause altered heart beats, seizures, and involuntary muscle contraction.

Study of these patients has provided a lot of our information about how Mg2+ levels are normally controlled, which is of clinical importance as it has been estimated that up to 60% of critically ill patients have low Mg2+ levels, and this is associated with increased mortality.

Renι Bindels and colleagues, at Radboud University Nijmegen Medical Centre, The Netherlands, have now identified a new gene mutation in a family with hypomagnesemia, providing new insight into the mechanisms that regulate Mg2+ levels.

In the study, a mutation in the KCNA1 gene, which makes a protein known as Kv1.1, was found to cause hypomagnesemia in a large family with many individuals suffering from the disease. Detailed analysis revealed that the mutation generated a nonfunctional Kv1.1 protein and that it affected Mg2+ reabsorption by the protein TRPM6 in a region of the kidney known as the distal convoluted tubule.

In an accompanying commentary, David Ellison, at Oregon Health & Science University, Portland, discusses the importance of the data and suggests how they might explain some of the clinical situations in which critically ill patients have low Mg2+ levels.

The research is published in the March 23, 2009, issue of 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. Bob Glaudemans, Jenny van der Wijst, Rosana H. Scola, Paulo J. Lorenzoni, Angelien Heister, AnneMiete W. van der Kemp, Nine V. Knoers, Joost G. Hoenderop, Renι J. Bindels. A missense mutation in the Kv1.1 voltage-gated potassium channel–encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia. Journal of Clinical Investigation, 2009; DOI: 10.1172/JCI36948
  2. David H. Ellison. The voltage-gated K channel subunit Kv1.1 links kidney and brain. Journal of Clinical Investigation, 2009; DOI: 10.1172/JCI38835

Cite This Page:

Journal of Clinical Investigation. "New Gene Linked To Low Levels Of Magnesium." ScienceDaily. ScienceDaily, 28 March 2009. <www.sciencedaily.com/releases/2009/03/090324213335.htm>.
Journal of Clinical Investigation. (2009, March 28). New Gene Linked To Low Levels Of Magnesium. ScienceDaily. Retrieved September 30, 2014 from www.sciencedaily.com/releases/2009/03/090324213335.htm
Journal of Clinical Investigation. "New Gene Linked To Low Levels Of Magnesium." ScienceDaily. www.sciencedaily.com/releases/2009/03/090324213335.htm (accessed September 30, 2014).

Share This



More Health & Medicine News

Tuesday, September 30, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

How 'Yes Means Yes' Defines Sexual Assault

How 'Yes Means Yes' Defines Sexual Assault

Newsy (Sep. 29, 2014) — Aimed at reducing sexual assaults on college campuses, California has adopted a new law changing the standard of consent for sexual activity. Video provided by Newsy
Powered by NewsLook.com
Scientists May Have Found An Early Sign Of Pancreatic Cancer

Scientists May Have Found An Early Sign Of Pancreatic Cancer

Newsy (Sep. 29, 2014) — Researchers looked at 1,500 blood samples and determined people who developed pancreatic cancer had more branched chain amino acids. Video provided by Newsy
Powered by NewsLook.com
Colo. Doctors See Cluster of Enterovirus Cases

Colo. Doctors See Cluster of Enterovirus Cases

AP (Sep. 29, 2014) — Doctors at the Children's Hospital of Colorado say they have treated over 4,000 children with serious respiratory illnesses since August. Nine of the patients have shown distinct neurological symptoms, including limb weakness. (Sept. 29) Video provided by AP
Powered by NewsLook.com
Dr.'s Unsure of Cause of Fast-Spreading Virus

Dr.'s Unsure of Cause of Fast-Spreading Virus

AP (Sep. 29, 2014) — Doctors at the Children's Hospital of Colorado say they have treated over 4,000 children with serious respiratory illnesses since August. Nine of the patients have shown distinct neurological symptoms, including limb weakness. (Sept. 29) 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:

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