Study unveils new approach to treating brittle bone disease

May 4, 2014, Baylor College of Medicine

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

Compound made inside human body stops viruses from replicating

June 20, 2018
The newest antiviral drugs could take advantage of a compound made not by humans, but inside them. A team of researchers has identified the mode of action of viperin, a naturally occurring enzyme in humans and other mammals ...

Research reveals zero proof probiotics can ease your anxiety

June 20, 2018
If you're expecting probiotics to reduce your anxiety, it might be time to put down that yogurt spoon—or supplement bottle—and call a professional instead.

Simple sugar delays neurodegeneration caused by enzyme deficiency

June 20, 2018
A new therapeutic approach may one day delay neurodegeneration typical of a disease called mucopolysaccharidoses IIIB (MPS IIIB). Neurodegeneration in this condition results from the abnormal accumulation of essential cellular ...

Researchers use AI to improve mammogram interpretation

June 20, 2018
In an effort to reduce errors in the analyses of diagnostic images by health professionals, a team of researchers from the Department of Energy's Oak Ridge National Laboratory has improved understanding of the cognitive processes ...

Long-term estrogen therapy changes microbial activity in the gut, study finds

June 20, 2018
Long-term therapy with estrogen and bazedoxifene alters the microbial composition and activity in the gut, affecting how estrogen is metabolized, a new study in mice found.

Everything big data claims to know about you could be wrong

June 19, 2018
When it comes to understanding what makes people tick—and get sick—medical science has long assumed that the bigger the sample of human subjects, the better. But new research led by UC Berkeley suggests this big-data ...

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.