A study by researchers at the Children’s Hospital of Philadelphia, Pennsylvania, has identified the genes that affect bone mineral density and, therefore, may cause osteoporosis.
Osteoporosis is a common disease that weakens the bones through loss of tissue. As a result, the bones become brittle and fragile, and the sufferer will be at greater risk of fractures. Osteoporosis is caused by hormonal changes, or lack of calcium and/or vitamin D, and most often affects older women. The wrists, hips and spine are particularly prone to breakage. Fractures have a hugely negative effect on patients’ quality of life, leading to long hospital stays, loss of mobility and increased risk of mortality. The cost of treating patients in our ageing population is set to rise.
The Pennsylvania researchers used powerful new tools to study the 3D geography of parts of the human genome, or DNA sequence. As DNA is folded into chromosomes, studying it in 3D helped scientists to see how various genes come into contact with one another and interact. The cells within DNA that make new bone, called osteoblasts, were studied and two in particular were identified as influencing bone mineral density. The researchers have indicated that the methods they used may be helpful in studying other genetic conditions, including paediatric cancer, diabetes and lupus.
Researchers have explained that, although the genes they have identified are associated with bone density, further research will be required to confirm that the genes actually cause conditions like osteoporosis. Further studies could also lead to new treatments to strengthen the bones and prevent fracture.
Victoria Johnson, an associate in Penningtons Manches’ clinical negligence team, said: “Osteoporosis can be a devastating condition, causing sufferers to lose their independence and ability to enjoy normal life, for fear of suffering fractures.
“Scientists have known that osteoporosis has a genetic component for some time but identifying the specific genes that affect bone density could help us identify whether a person is genetically at risk from osteoporosis, paving the way for targeted treatments that would prevent bone density loss and fractures before they start affecting patients’ lives. If the techniques used here can also be applied to our understanding and treatment of other genetic diseases then this could be very exciting news.”