As many as 100,000 Australians could be carrying a genetic mutation that predisposes them to low bone density and a higher risk of bone fractures.
Bone researchers at Griffith University are now in a position to further advance knowledge of such mutations following the announcement this week of a substantial funding win from the National Health and Medical Research Council.
World Osteoporosis Day is tomorrow (Friday, October 20).
Chief investigator Dr Nigel Morrison from Griffith’s Genomics Research Centre said the RUNX2 gene was a master regulator that controlled the development of bone cells or osteoblasts.
Animal studies have confirmed that the gene is critical to bone development, and there are known mutations in humans that can cause extremely rare but severe bone disease.
“However, what we are particularly interested in, is understanding the variants of the gene that impact on more common diseases such as osteoporosis,” Dr Morrison said.
“This gene is also expressed in cartilage and it may be that gene variants also have effects on conditions such as osteoarthritis.”
Both diseases are complex disorders influenced by a combination of genetic and environmental factors. They are also costly diseases that contribute significantly to the burden of disease and disability in Australia.
Dr Morrison said the project would bring together an Australia-wide collaboration of clinical researchers and a US colleague who is a world leader in the functional analysis of bone genes.
“We want to understand the molecular mechanisms that control cell fate in bone ? why stem cells, for example, differentiate into bone cells. To do that we will access information and DNA from extensive clinical databases.”
Dr Morrison said most carriers of the RUNX2 gene variants were otherwise healthy people whose bone mineral density would be in the lower part of the normal range.