Degrading mutations

Mutations in matrix metalloproteases have been detected in inherited osteolytic and arthritic disorder.

| 1 min read

Register for free to listen to this article
Listen with Speechify
0:00
1:00
Share

Inherited osteolysis (also known as vanishing bone syndrome) is characterized by abnormal destruction and resorption of bone. In the July issue of Nature Genetics, Martignetti et al. identify mutations in the matrix metalloproteinase 2 gene (MMP2) in several Saudi Arabian families with osteolysis (Nature Genetics 2001, 28:261-265). They performed a genome-wide search for homozygous-by-descent microsatellite markers, in order to hone in on a region of chromosome 16q12 that includes the MMP2 gene. MMP2 enzymatic activity could not be detected in serum or cultured skin fibroblasts from these patients. Martignetti et al. identified two homoallelic MMP2 mutations: a missense mutation (R101H) within the prodomain and a non-sense mutation (Y244X) that deletes the catalytic sites. The authors suggest that the unexpected role of MMP2 in osteolysis may involve deregulated extracelluar matrix breakdown leading to an imbalance between bone synthesis and resorption.

Interested in reading more?

Become a Member of

The Scientist Logo
Receive full access to more than 35 years of archives, as well as TS Digest, digital editions of The Scientist, feature stories, and much more!
Already a member? Login Here

Meet the Author

  • Jonathan Weitzman

    This person does not yet have a bio.
Share
3D illustration of a gold lipid nanoparticle with pink nucleic acid inside of it. Purple and teal spikes stick out from the lipid bilayer representing polyethylene glycol.
February 2025, Issue 1

A Nanoparticle Delivery System for Gene Therapy

A reimagined lipid vehicle for nucleic acids could overcome the limitations of current vectors.

View this Issue
Enhancing Therapeutic Antibody Discovery with Cross-Platform Workflows

Enhancing Therapeutic Antibody Discovery with Cross-Platform Workflows

sartorius logo
Considerations for Cell-Based Assays in Immuno-Oncology Research

Considerations for Cell-Based Assays in Immuno-Oncology Research

Lonza
An illustration of animal and tree silhouettes.

From Water Bears to Grizzly Bears: Unusual Animal Models

Taconic Biosciences
Sex Differences in Neurological Research

Sex Differences in Neurological Research

bit.bio logo

Products

Photo of a researcher overseeing large scale production processes in a laboratory.

Scaling Lentiviral Vector Manufacturing for Optimal Productivity

Thermo Fisher Logo
Discover a serum-free way to produce dendritic cells and macrophages for cell therapy applications.

Optimizing In Vitro Production of Monocyte-Derived Dendritic Cells and Macrophages

Thermo Fisher Logo
Collage-style urban graphic of wastewater surveillance and treatment

Putting Pathogens to the Test with Wastewater Surveillance

An illustration of an mRNA molecule in front of a multicolored background.

Generating High-Quality mRNA for In Vivo Delivery with Lipid Nanoparticles

Thermo Fisher Logo