Genetic cause of brittle bone disease discovery opens door to future therapies

The treatment of brittle bone disease may be set to improve thanks to the identification of a key genetic cause of the condition.
Research published in Nature Medicine reveals that the onset of brittle bone disease is associated with excessive activity of an important signalling protein inside the bone called transforming growth factor (TGF) beta.
Although lots of different genetic mutations can affect the proteins in the bone matrix, one common pathway seesms to actually causes the development of brittle bone disease. And blocking the TGF proteins using an antibody restored the quantity of bone in mice with different forms of brittle bone disease.
Current ways of treating brittle bone do not tackle its underlying causes, but instead focus on preventing fractures, bone-strengthening drugs and physical therapy.
This new research offers opportunity for the development of drugs to tackle the disease.