Researchers discover 'thermostat' that regulates bone density

Researchers tracking the cause of a rare genetic disorder that causes brittle bones have discovered a genetic thermostat that appears to control the accumulation of bone mass during growth. The findings could substantially increase understanding of why many people fail to achieve sufficient bone mass during the first three decades of life, a significant risk factor for the development of osteoporosis.

Osteoporosis is the underlying cause of more than 1.7 million hip fractures annually worldwide. In the United States alone the cost of treating osteoporotic fractures approaches $15 billion annually.

In an article published in the November 16, 2001, issue of the journal Cell, an international consortium of 62 clinicians and scientists led by Howard Hughes Medical Institute investigator Matthew L. Warman reported the discovery of the cause of the inherited disorder, osteoporosis-pseudoglioma syndrome (OPPG). Studies of families with OPPG led the researchers to mutations in a completely unsuspected gene called LDL receptor-related protein 5 (LRP5), which codes for a protein whose precise cellular function remains unknown.

I became interested in this extremely rare disease in 1993 after meeting three affected patients, said Warman, who is at Case Western Reserve University and University Hospitals of Cleveland. Their sever symptoms of very brittle bones and progressive blindness convinced us that this was an important disease to solve. So, with the support of my mentor, professor Bjorn Olsen at Harvard Medical School, we formed an osteoporosis-pseudoglioma collaborative group to enlist affected families and their physicians in this effort.

Although the researchers were able to identify the region of the genome that apparently harbored the gene mutation responsible for OPPG, they did not zero in on the gene responsible until a good working draft of the human genome sequence became available. This led the research team to LRP5.


Contact: Jim Keeley
Howard Hughes Medical Institute

Page: 1 2 3

Related biology news :

1. Researchers determine genetic cause of Timothy syndrome
2. Researchers find color sensitive atomic switch in bacteria
3. Researchers identify protein promoting vascular tumor growth
4. Researchers devise potent new tools to curb ivory poaching
5. Researchers create nanotubes that change colors, form nanocarpet and kill bacteria
6. Researchers ID chlorophyll-regulating gene
7. Researchers develop fast track way to discover how cells are regulated
8. Researchers identify distinctive signature for metastatic prostate cancer
9. Researchers report new gene test for isolated cleft lip and palate
10. Researchers discover why mutant gene causes colon cancer
11. Researchers identify the genomes controlling elements

Post Your Comments:

(Date:3/23/2016)... 2016 Einzigartige ... und Stimmerkennung mit Passwörtern     ... MESG ), ein führender Anbieter digitaler Kommunikationsdienste, ... SpeechPro zusammenarbeitet, um erstmals dessen Biometrietechnologie einzusetzen. ... Möglichkeit angeboten, im Rahmen mobiler Apps neben ...
(Date:3/22/2016)... , PROVO and ... Newborn Screening Ontario (NSO), which operates the highest sample ... molecular testing, and Tute Genomics and UNIConnect, leaders in ... respectively, today announced the launch of a project to ... (NGS) testing panel. NSO has been ...
(Date:3/18/2016)... --> --> ... & Unmanned Vehicles, Physical infrastructure and Perimeter Surveillance & Detection ... border security market and the continuing migration crisis in the ... has led visiongain to publish this unique report, ... defence & security companies in the border security ...
Breaking Biology News(10 mins):
(Date:6/23/2016)... -- Houston Methodist Willowbrook Hospital has signed a ... serve as their official health care provider. As ... provide sponsorship support, athletic training services, and most ... athletes and families. "We are excited ... to bring Houston Methodist quality services and programs ...
(Date:6/23/2016)...   EpiBiome , a precision microbiome engineering company, ... financing from Silicon Valley Bank (SVB). The financing will ... its drug development efforts, as well as purchase additional ... has been an incredible strategic partner to us – ... would provide," said Dr. Aeron Tynes Hammack , ...
(Date:6/23/2016)... LOUISVILLE, Ky. , June 23, 2016 /PRNewswire/ ... from two Phase 1 clinical trials of its ... double-blind, placebo-controlled, single and multiple ascending dose studies ... and pharmacodynamics (PD) of subcutaneous injection in healthy ... APL-2 subcutaneously (SC) either as a single dose ...
(Date:6/23/2016)... ... June 23, 2016 , ... ClinCapture, the only free validated ... will showcase its product’s latest features from June 26 to June 30, 2016 ... on Disrupting Clinical Trials in The Cloud during the conference. DIA (Drug ...
Breaking Biology Technology:
Cached News: