Study unveils new approach to treating brittle bone disease

May 4, 2014

Researchers at Baylor College of Medicine have identified a new approach to treating brittle bone disease, a congenital disorder that results in fragile bones that break easily.

The study, published in the current issue of the journal Nature Medicine, showed that excessive activity of an important signaling protein in the matrix of the bone called transforming growth factor beta is associated with the cause of the disease.

"There are many genetic causes of brittle in children and adults," said Dr. Brendan Lee, professor of molecular and human genetics at Baylor and a Howard Hughes Medical Institute investigator. "We have discovered many of them but clinicians still cannot easily distinguish the different forms."

Lee said the new study suggested that there may be common mechanisms that cause the decreased quality and quantity of bone in these different forms.

"This identified an important concept in bone disease that while many different can affect the proteins in the (like collagen) they act in a common pathway to cause the bone disease – that is they affect how signaling proteins called transforming beta (TGF) are delivered to cells in the bone," said Lee. "We now have a deeper understanding for how genetic mutations that affect collagen and collagen processing enzymes cause weak bones."

Collagen is the most common protein in the human body, and the four most common types are found in different types of tissues including bone, cartilage, blood vessels, and kidney.

In animal studies, Lee and his colleagues showed that blockade of the TGF proteins using an antibody could restore the quantity of bone in mice with different forms of brittle bone disease.

"This treatment appears even more effective than other existing approaches," said Lee.

There are currently drugs in development to block this pathway in humans, so eventually the work can be translated into human studies, he said.

Existing approaches revolve around symptom management such as prevention of , physical therapy and strengthening drugs, not necessarily medications to target the underlying cause of the disease, he said.

The study is novel because it shows a personalized approach to more effective treatment patients with these forms of .

"We hope this approach will also be useful in more common forms of osteoporosis," said Lee.

Explore further: Gene discoveries give hope against 'Brittle bone' disease

More information: Excessive transforming growth factor-β signaling is a common mechanism in osteogenesis imperfecta, Nature Medicine, DOI: 10.1038/nm.3544

Related Stories

Gene discoveries give hope against 'Brittle bone' disease

May 8, 2013
(HealthDay)—Mutations in a gene involved in bone development appear to cause certain severe forms of bone loss, a finding that could lead to new therapies for the common bone-thinning disorder osteoporosis, researchers ...

Proper stem cell function requires hydrogen sulfide

April 17, 2014
Stem cells in bone marrow need to produce hydrogen sulfide in order to properly multiply and form bone tissue, according to a new study from the Center for Craniofacial Molecular Biology at the Herman Ostrow School of Dentistry ...

New treatment for brittle bone disease found

August 9, 2013
A new treatment for children with brittle bone disease has been developed by the University of Sheffield and Sheffield Children's Hospital.

Changes to cartilage linked to bone cancer offers a possible new diagnostic approach

June 17, 2013
(Medical Xpress)—For the first time, researchers from The Wellcome Trust Sanger Institute, the Royal National Orthopaedic Hospital and UCL Cancer Institute, have linked a gene central to the production of cartilage, COL2A1, ...

Identification of a molecule linking bone loss and bone formation

August 1, 2013
Bone integrity requires skeletal remodeling, which involves both bone formation and resorption. It has been previously shown that the formation of new bone is triggered by degradation of older bone. However, it is unknown ...

Not only bone density, but also quality of bone predicts fracture risk

August 5, 2013
In a study carried out at the University of Eastern Finland, bone histomorphometry and infrared spectroscopy revealed abnormal bone properties in children with vertebral fractures and in children after solid organ transplantation. ...

Recommended for you

Molecular hitchhiker on human protein signals tumors to self-destruct

July 24, 2017
Powerful molecules can hitch rides on a plentiful human protein and signal tumors to self-destruct, a team of Vanderbilt University engineers found.

Researchers develop new method to generate human antibodies

July 24, 2017
An international team of scientists has developed a method to rapidly produce specific human antibodies in the laboratory. The technique, which will be described in a paper to be published July 24 in The Journal of Experimental ...

New vaccine production could improve flu shot accuracy

July 24, 2017
A new way of producing the seasonal flu vaccine could speed up the process and provide better protection against infection.

A sodium surprise: Engineers find unexpected result during cardiac research

July 20, 2017
Irregular heartbeat—or arrhythmia—can have sudden and often fatal consequences. A biomedical engineering team at Washington University in St. Louis examining molecular behavior in cardiac tissue recently made a surprising ...

Want to win at sports? Take a cue from these mighty mice

July 20, 2017
As student athletes hit training fields this summer to gain the competitive edge, a new study shows how the experiences of a tiny mouse can put them on the path to winning.

'Smart' robot technology could give stroke rehab a boost

July 19, 2017
Scientists say they have developed a "smart" robotic harness that might make it easier for people to learn to walk again after a stroke or spinal cord injury.

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.