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.

Related Articles


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 December 19, 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 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

The Best Tips to Curb Holiday Carbs

The Best Tips to Curb Holiday Carbs

Buzz60 (Dec. 19, 2014) It's hard to resist those delicious but fattening carbs we all crave during the winter months, but there are some ways to stay satisfied without consuming the extra calories. Vanessa Freeman (@VanessaFreeTV) has the details. Video provided by Buzz60
Powered by NewsLook.com
Sierra Leone Bikers Spread the Message to Fight Ebola

Sierra Leone Bikers Spread the Message to Fight Ebola

AFP (Dec. 19, 2014) More than 100 motorcyclists hit the road to spread awareness messages about Ebola. Nearly 7,000 people have now died from the virus, almost all of them in west Africa, according to the World Health Organization. Video provided by AFP
Powered by NewsLook.com
Researchers Test Colombian Village With High Alzheimer's Rates

Researchers Test Colombian Village With High Alzheimer's Rates

AFP (Dec. 19, 2014) In Yarumal, a village in N. Colombia, Alzheimer's has ravaged a disproportionately large number of families. A genetic "curse" that may pave the way for research on how to treat the disease that claims a new victim every four seconds. Duration: 02:42 Video provided by AFP
Powered by NewsLook.com
Double-Amputee Becomes First To Move Two Prosthetic Arms With His Mind

Double-Amputee Becomes First To Move Two Prosthetic Arms With His Mind

Buzz60 (Dec. 19, 2014) A double-amputee makes history by becoming the first person to wear and operate two prosthetic arms using only his mind. Jen Markham has the story. Video provided by Buzz60
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