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 ...

Recommended for you

As cells age, the fat content within them shifts

January 19, 2017

As cells age and stop dividing, their fat content changes, along with the way they produce and break down fat and other molecules classified as lipids, according to a new University at Buffalo study.

What causes sleepiness when sickness strikes

January 19, 2017

It's well known that humans and other animals are fatigued and sleepy when sick, but it's a microscopic roundworm that's providing an explanation of how that occurs, according to a study from researchers at the Perelman School ...

Soft robot helps the heart beat

January 18, 2017

Harvard University and Boston Children's Hospital researchers have developed a customizable soft robot that fits around a heart and helps it beat, potentially opening new treatment options for people suffering from heart ...

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.