Osteoporosis: New tools help pinpoint potential risk genes

A combination of powerful tools has helped scientists identify two new genes that could contribute to osteoporosis through their effect on bone density. The finding could lead to better treatments for the bone-weakening disease.
female scientist works with dna tools in lab

It may soon be possible to predict osteoporosis before it develops.

The study, by researchers at the Children’s Hospital of Philadelphia (CHOP) in Pennsylvania, highlights the importance of understanding the 3D geography of the genome in locating genes that cause disease.

The team points out that identifying DNA variants, or differences, behind diseases, is not necessarily enough to locate the genes that cause the disease. The variants, for example, could be triggers of genes in other parts of the genome.

In a paper that now features in the journal Nature Communications, the researchers describe how they probed the 3D geography of DNA in bone-forming cells to locate genes that might influence bone mineral density.

They suggest that their methods could also help to study other genetic conditions, including pediatric diseases.

“The geography of the genome is not linear,” says co-senior study author Struan F. A. Grant Ph.D., who is a director of the Center for Spatial and Functional Genomics at CHOP.

“Because DNA is folded into chromosomes,” he explains, “parts of the genome may come into physical contact, enabling key biological interactions that affect how a gene is expressed. That’s why we study the three-dimensional structure of the genome.”

Osteoporosis and the genome

Osteoporosis is a disease that progressively weakens the bones and increases the risk of fracture, especially in the wrist, spine, and hip.

Bone tissue is alive and perpetually adds new bone and removes old bone. In childhood, the process favors the formation of new tissue, allowing bones to grow and get stronger.