We use cookies to understand how you use our site and to improve your experience. This includes personalizing content and advertising. To learn more, click here. By continuing to use our site, you accept our use of cookies. Cookie Policy.

Features Partner Sites Information LinkXpress hp
Sign In
Advertise with Us
INTEGRA BIOSCIENCES AG

Download Mobile App




Genetic Mutation Causes High Bone Density

By Biotechdaily staff writers
Posted on 29 May 2002
Print article
Researchers have discovered a genetic mutation that causes extremely high bone density in humans. The finding may suggest a new route for developing drugs that can increase bone density to prevent or treat osteoporosis. The study was published in the May 16, 2002, issue of The New England Journal of Medicine.

The investigators identified a US family with very strong bones because of a genetic mutation. Family members with this mutation have no symptoms, but they do have a strikingly deep and wide jaw and bony growth on the palate. Twenty family members aided the research by providing blood samples for DNA and bone density testing. Seven members of the family had extremely high bone density, while nine had entirely normal density. Serum and urinary biochemical measurements were performed in four members and then compared with results from nine control subjects.

"What we found is that the high bone density in this family behaved as a single gene disorder,” said Richard Lifton, M.D., chair of the department of genetics at Yale School of Medicine (New Haven, CT, USA). "We then went on to map the location of the gene and identified the specific mutation responsible for the high bone density.”

The researchers mapped the gene to the same chromosome segment in LRP5, shown to be the source of a mutation that causes a loss in the function of the LRP5 gene, resulting in low bone density. "It made us wonder if a different mutation increased LRP5 function leading to an opposite phenotype, that is, high bone density,” explained Dr. Lifton. He noted that the study also showed that prevention of the normal inhibition of LRP5 by Dkk, another developmental protein, causes high bone density without other clinical side effects, suggesting a new route for osteoporosis therapy.




Related Links:
Yale Univ.
Gold Member
Chagas Disease Test
CHAGAS Cassette
Verification Panels for Assay Development & QC
Seroconversion Panels
New
Ultra-Low Temperature Freezer
iUF118-GX
New
FOB+Transferrin+Calprotectin+Lactoferrin Test
CerTest FOB+Transferrin+Calprotectin+Lactoferrin Combo Test

Print article

Channels

Clinical Chemistry

view channel
Image: Professor Nicole Strittmatter (left) and first author Wei Chen stand in front of the mass spectrometer with a tissue sample (Photo courtesy of Robert Reich/TUM)

Mass Spectrometry Detects Bacteria Without Time-Consuming Isolation and Multiplication

Speed and accuracy are essential when diagnosing diseases. Traditionally, diagnosing bacterial infections involves the labor-intensive process of isolating pathogens and cultivating bacterial cultures,... Read more

Molecular Diagnostics

view channel
Image: Health Canada has approved SPINEstat, a first-in-class diagnostic blood test for axSpA, as a Class II medical device (Photo courtesy of Augurex)

First-in-Class Diagnostic Blood Test Detects Axial Spondyloarthritis

Axial spondyloarthritis (axSpA) is a chronic inflammatory autoimmune condition that typically affects individuals during their most productive years, with symptoms often emerging before the age of 45.... Read more

Immunology

view channel
Image: The cancer stem cell test can accurately choose more effective treatments (Photo courtesy of University of Cincinnati)

Stem Cell Test Predicts Treatment Outcome for Patients with Platinum-Resistant Ovarian Cancer

Epithelial ovarian cancer frequently responds to chemotherapy initially, but eventually, the tumor develops resistance to the therapy, leading to regrowth. This resistance is partially due to the activation... Read more

Technology

view channel
Image: The new algorithms can help predict which patients have undiagnosed cancer (Photo courtesy of Adobe Stock)

Advanced Predictive Algorithms Identify Patients Having Undiagnosed Cancer

Two newly developed advanced predictive algorithms leverage a person’s health conditions and basic blood test results to accurately predict the likelihood of having an undiagnosed cancer, including ch... Read more

Industry

view channel
Image: The collaboration aims to leverage Oxford Nanopore\'s sequencing platform and Cepheid\'s GeneXpert system to advance the field of sequencing for infectious diseases (Photo courtesy of Cepheid)

Cepheid and Oxford Nanopore Technologies Partner on Advancing Automated Sequencing-Based Solutions

Cepheid (Sunnyvale, CA, USA), a leading molecular diagnostics company, and Oxford Nanopore Technologies (Oxford, UK), the company behind a new generation of sequencing-based molecular analysis technologies,... Read more
Copyright © 2000-2025 Globetech Media. All rights reserved.