home   genetic news   bioinformatics   biotechnology   literature   journals   ethics   positions   events   sitemap
 
  HUM-MOLGEN -> Genetic News | search  
 

Vanishing Bone Syndrome Caused By Mutations In The Matrix Metalloproteinase Gene

 
  July, 2 2001 2:29
your information resource in human molecular genetics
 
     
Picking a bone with the matrix

Contrary to common perception, bones are dynamic tissues in which some cells, the osteoblasts, contribute to bone deposition, and others, the osteoclasts, promote bone resorption. Toggling the balance between these opposing activities results in bone formation and remodeling during growth and regeneration. This balance would seem to be upset in people with the 'vanishing bone' syndromes - a group of disorders where the affected bones are excessively resorbed and destroyed (osteolysis). Other aspects of these diseases include erosion of the joints between the phalanxes, reminiscent of rheumatoid arthritis. Until now, the cause of vanishing bone syndromes was unknown.

John Martignetti (of Mount Sinai School of Medicine, New York) and colleagues now report the cause of one form of inherited osteolysis: mutations in the gene encoding a matrix metalloproteinase, which belongs to a large family of proteases that degrade components of the extra-cellular matrix (ECM) (Nature Genetics, Vol. 28, No. 3, 01 July 2001). In bones, the ECM is thought to be essential for proper differentiation of the surrounding cell types, such as osteoblasts and osteoclasts, and may thus affect the equilibrium between bone formation and resorption. Diminished ECM, however, is thought to underlie osteolysis, and so mutations in a gene whose product breaks down the extracellular matrix comes as something of a surprise.

As discussed in an accompanying News & Views article by Thiennu Vu (of University of California, San Francisco, California), this study should inspire caution when designing therapeutic approaches to disorders caused by the disruption of the ECM.

CONTACT:

Dr. John Martignetti
Mount Sinai School of Medicine
New York, New York, USA.
Telephone: +1 (212) 659-6744
Fax: +1 (212) 849-2638
Email: john.martignetti@mssm.edu


Dr. Thiennu Vu
University of California
San Francisco, California, USA.
Telephone: +1 (415) 206-5908
Fax: +1 (415) 206-4123
Email: thiennu@itsa.ucsf.edu

(C) Nature Genetics press release.


Message posted by: Trevor M. D'Souza

print this article mail this article
Bookmark and Share this page (what is this?)

Social bookmarking allows users to save and categorise a personal collection of bookmarks and share them with others. This is different to using your own browser bookmarks which are available using the menus within your web browser.

Use the links below to share this article on the social bookmarking site of your choice.

Read more about social bookmarking at Wikipedia - Social Bookmarking

Latest News
Variants Associated with Pediatric Allergic Disorder

Mutations in PHF6 Found in T-Cell Leukemia

Genetic Risk Variant for Urinary Bladder Cancer

Antibody Has Therapeutic Effect on Mice with ALS

Regulating P53 Activity in Cancer Cells

Anti-RNA Therapy Counters Breast Cancer Spread

Mitochondrial DNA Diversity

The Power of RNA Sequencing

‘Pro-Ageing' Therapy for Cancer?

Niche Genetics Influence Leukaemia

Molecular Biology: Clinical Promise for RNA Interference

Chemoprevention Cocktail for Colon Cancer

more news ...

Generated by News Editor 2.0 by Kai Garlipp
WWW: Kai Garlipp, Frank S. Zollmann.
7.0 © 1995-2016 HUM-MOLGEN. All rights reserved. Liability, Copyright and Imprint.