Science News

... from universities, journals, and other research organizations

New Gene Defect Causes Heavy Bones

ScienceDaily (Apr. 3, 2007) — Osteopetrosis is an inherited disorder whereby bones harden and become denser. There are several different types of osteopetrosis caused by distinct genetic mutations, but not all the causative genetic mutations have been identified.

In a study that appears in the April issue of the Journal of Clinical Investigation, researchers from the University of Antwerp, Belgium, identify PLEKHM1 as a new gene in which loss-of-function mutations cause osteopetrosis in humans and rats.

Wim Van Hul and colleagues showed that a genetic mutation in PLEKHM1 caused the bone and tooth defects observed in incisors absent rats. A mutation in the same gene was associated with disease in a human patient with osteopetrosis. Bone cells known as osteoclasts from both this patient and incisors absent rats were impaired in their ability to destroy bone (which is essential for maintaining healthy bones).

Further analysis suggested that PLEKHM1 was important for the transport of vesicles inside the osteoclasts, but further studies will be required before the precise molecular mechanism(s) by which PLEKHM1 loss-of-function mutations causes osteopetrosis is determined.

Recommend this story on Facebook, Twitter,
and Google +1:

Other bookmarking and sharing tools:

| More

Story Source:

The above story is reprinted from materials provided by Journal of Clinical Investigation.

Note: Materials may be edited for content and length. For further information, please contact the source cited above.


APA

MLA

Note: If no author is given, the source is cited instead.

Disclaimer: This article is not intended to provide medical advice, diagnosis or treatment. Views expressed here do not necessarily reflect those of ScienceDaily or its staff.

Search ScienceDaily

Number of stories in archives: 114,939

Find with keyword(s):
 
Enter a keyword or phrase to search ScienceDaily's archives for related news topics,
the latest news stories, reference articles, science videos, images, and books.

 
  more breaking science news

Social Networks


Recommend this story on Facebook, Twitter,
and Google +1:
Other bookmarking and sharing tools:
| More

Breaking News

... from NewsDaily.com

In Other News ...

Copyright Reuters 2008. See Restrictions.

Free Subscriptions

... from ScienceDaily

Get the latest science news with our free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Feedback

... we want to hear from you!

Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?

 
Post this page to your favorite social bookmarking site:
close
Include this item in your blog or web site:
close
Cite this article in your essay, paper, or report:
close
Email this page's link to a friend or colleague:
close