New molecule discovery linked to bone disease

An international team of scientists including 15 researchers from The University of Western Australia has discovered a molecule linked to high bone density that may pave the way for new treatment options for osteoporosis and other bone health conditions.

"Our discovery adds the molecule to the list of osteosclerosis-causing genes and may provide a genetic basis for patients with high bone mass diseases that currently remain undiagnosed."

Associate Professor Nathan Pavlos

More than six million Australians aged over 50 live with poor bone health, the most common condition being osteoporosis.

The new research, published today in Nature Communications, uncovered a molecule in giant bone-dissolving cells in mice that showed a strong genetic association with the regulation of human bone mass when assessed against 400,000 people.

Image: Associate Professor Nathan Pavlos

Lead researcher Associate Professor Nathan Pavlos, from UWA’s School of Biomedical Sciences, said while the existence of the sugar-transporting molecule had long been predicted, its identity remained unknown until now.

“We confirmed the existence of this molecule by genetically engineering mice lacking the gene, which resulted in profound high bone mass, a disorder in humans known as osteosclerosis,” Associate Professor Pavlos said.

“Mutations in a few genes are known to cause osteosclerosis but explain only a very small proportion of high bone mass cases.

“Our discovery adds the molecule to the list of osteosclerosis-causing genes and may provide a genetic basis for patients with high bone mass diseases that currently remain undiagnosed.”

Associate Professor Pavlos said the research paved the way for preclinical studies to develop a drug targeting the molecule, known as Slc37a2.

“Molecules that regulate skeletal bone mass like Slc37a2 represent attractive ‘druggable’ targets for the treatment of metabolic bone diseases such as and osteoporosis,” he said.