Featured Research

from universities, journals, and other organizations

Third Gene Responsible For Genetic Disorder Identified

Date:
August 21, 2007
Source:
Journal of Clinical Investigation
Summary:
Tumoral calcinosis is an inherited disorder that is characterized by the presence of lumps of calcium at inappropriate sites in the body, such as around the hip, elbow, shoulder, and knee joints. Previously, mutations in two genes (FGF23 and GALNT3) had been shown to cause this disease. Now, researchers have identified in a third gene a mutation that causes tumoral calcinosis.

Tumoral calcinosis is an inherited disorder that is characterized by the presence of lumps of calcium at inappropriate sites in the body, such as around the hip, elbow, shoulder, and knee joints.

Previously, mutations in two genes (FGF23 and GALNT3) had been shown to cause this disease. Now, researchers from Indiana University School of Medicine have identified in a third gene a mutation that causes tumoral calcinosis.

In the study, which appears online on August 16 in advance of publication in the September print issue of the Journal of Clinical Investigation, Michael Econs and colleagues show that a 13 year old girl with tumoral calcinosis has a mutation in both copies of her KL gene.

In vitro analysis revealed that the KL protein resulting from this mutation was expressed and secreted at lower levels than normal KL and that it was unable to help FGF23 mediate its functions.

This study provides insight into why mutations in the KL gene cause tumoral calcinosis and gives clinicians a new candidate gene to consider when attempting to determine the etiology of tumoral calcinosis.

Article: A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis


Story Source:

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


Cite This Page:

Journal of Clinical Investigation. "Third Gene Responsible For Genetic Disorder Identified." ScienceDaily. ScienceDaily, 21 August 2007. <www.sciencedaily.com/releases/2007/08/070817102027.htm>.
Journal of Clinical Investigation. (2007, August 21). Third Gene Responsible For Genetic Disorder Identified. ScienceDaily. Retrieved September 2, 2014 from www.sciencedaily.com/releases/2007/08/070817102027.htm
Journal of Clinical Investigation. "Third Gene Responsible For Genetic Disorder Identified." ScienceDaily. www.sciencedaily.com/releases/2007/08/070817102027.htm (accessed September 2, 2014).

Share This




More Health & Medicine News

Tuesday, September 2, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

U.N. Says Ebola Travel Restrictions Will Cause Food Shortage

U.N. Says Ebola Travel Restrictions Will Cause Food Shortage

Newsy (Sep. 2, 2014) The U.N. says the problem is two-fold — quarantine zones and travel restrictions are limiting the movement of both people and food. Video provided by Newsy
Powered by NewsLook.com
Get on Your Bike! London Cycling Popularity Soars Despite Danger

Get on Your Bike! London Cycling Popularity Soars Despite Danger

AFP (Sep. 1, 2014) Wedged between buses, lorries and cars, cycling in London isn't for the faint hearted. Nevertheless the number of people choosing to bike in the British capital has doubled over the past 15 years. Duration: 02:27 Video provided by AFP
Powered by NewsLook.com
Can You Train Your Brain To Eat Healthy?

Can You Train Your Brain To Eat Healthy?

Newsy (Sep. 1, 2014) New research says if you condition yourself to eat healthy foods, eventually you'll crave them instead of junk food. Video provided by Newsy
Powered by NewsLook.com
We've Got Mites Living In Our Faces And So Do You

We've Got Mites Living In Our Faces And So Do You

Newsy (Aug. 30, 2014) A new study suggests 100 percent of adult humans (those over 18 years of age) have Demodex mites living in their faces. 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:
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