Team identifies genes influencing bone density

May 6, 2014 by Josh Barney, University of Virginia
School of Medicine researcher Charles Farber and his team identify genes influencing bone density.

(Medical Xpress)—Geneticists have taken a major step forward in the battle against osteoporosis by identifying two genes that play critical roles in regulating bone mineral density. By targeting those genes with therapeutics, doctors may one day be able to manipulate bone density to prevent or cure the bone fragility that endangers the health of millions around the world.

The research offers important insights into the development of osteoporosis, providing a new understanding of the causes of the potentially debilitating condition.

"Currently there are over 12 million individuals in the U.S. who are diagnosed with osteoporosis, and another 30 million who are at high risk of becoming osteoporotic," said University of Virginia School of Medicine researcher Charles Farber, noting the tremendous impact the disease can have on a person's health and quality of life: "Roughly half of women and a quarter of men over the age of 50 in the U.S. will experience a fracture, and of those one in four will die within the subsequent 12 months."

Using an innovative new genetic technique to unlock our ' secrets, Farber and his team determined that genetic variation in the gene Bicc1 regulates . They then determined how it was likely doing so – by influencing a second gene, Pkd2 – and showed that these genes play vital roles not just in lab mice, but in humans as well.

"There was a positive association between the levels of Bicc1 and the levels of , so the idea would be that if we can enhance the levels of Bicc1 in bone, that would be a very good thing for the skeleton," Farber said.

That finding could prove critically important for people with osteoporosis and those with a family history of osteoporosis, as the discovery opens up potential paths to preventing and treating the highly heritable condition.

"There are two facets to : the amount of bone you accrue early in life and the amount you lose with age. If you don't accrue enough or you lose bone more rapidly than most, then you at a higher risk for fracture," Farber said. "If we could promote Bicc1 activity at one or both stages, that may increase bone to the point of lowering fracture risk."

The research is also noteworthy for the novel method the scientists used to determine gene function. They figured out what Bicc1 does, in essence, by determining which other genes it works in tandem with. "We knew Bicc1 influenced bone mass, but we had no idea how it did this, so we simply asked what other genes its expression was correlated with," said Farber, of the U.Va. Center for Public Health Genomics. "What we found was Bicc1 was highly co-expressed with genes that play a role in -forming osteoblasts. This allowed us to predict that Bicc1 was also involved in the function of osteoblasts."

Further, the researchers used this principle to specially pinpoint that Bicc1 interacted with Pkd2.

The success of the technique offers scientists an important new way to deduce gene function. "We took an approach that people thought would work and we've demonstrated that it can," Farber said. "It's a proof of principle that you can use this notion of correlation to pick out a very detailed interaction between two genes."

The findings have been published online in the Journal of Clinical Investigation and will appear in a forthcoming print edition.

Explore further: WHO tool underestimates need for osteoporosis treatment, study finds

Related Stories

WHO tool underestimates need for osteoporosis treatment, study finds

April 29, 2014
The World Health Organization's tool for assessing bone fracture risk underestimates the true dangers for people who are younger than 65 or have been treated for a single broken bone, according to a new study published in ...

Study provides guidance on drug holidays from popular osteoporosis treatments

January 15, 2014
Doctors commonly recommend drug holidays, or breaks, from certain osteoporosis drugs due to the risks associated with these treatments. Yet little has been known about the ideal duration of the holidays and how best to manage ...

Proper stem cell function requires hydrogen sulfide

April 17, 2014
Stem cells in bone marrow need to produce hydrogen sulfide in order to properly multiply and form bone tissue, according to a new study from the Center for Craniofacial Molecular Biology at the Herman Ostrow School of Dentistry ...

Osteoporosis risk factors after the menopause

November 13, 2012
A preliminary study of 127 post-menopausal women on hormone replacement therapy in Portugal suggests that there are several risk factors associated with osteoporosis and bone fracture these include age, low bone mineral density, ...

Not only bone density, but also quality of bone predicts fracture risk

August 5, 2013
In a study carried out at the University of Eastern Finland, bone histomorphometry and infrared spectroscopy revealed abnormal bone properties in children with vertebral fractures and in children after solid organ transplantation. ...

Automated link to national intervention guidance helps doctors interpret FRAX results

April 30, 2014
The fracture risk assessment tool FRAX, promoted and supported by the International Osteoporosis Foundation (IOF), has become an important aid in the clinical assessment of osteoporotic fracture risk in patients aged 40 to ...

Recommended for you

Peers' genes may help friends stay in school, new study finds

January 18, 2018
While there's scientific evidence to suggest that your genes have something to do with how far you'll go in school, new research by a team from Stanford and elsewhere says the DNA of your classmates also plays a role.

Two new breast cancer genes emerge from Lynch syndrome gene study

January 18, 2018
Researchers at Columbia University Irving Medical Center and NewYork-Presbyterian have identified two new breast cancer genes. Having one of the genes—MSH6 and PMS2—approximately doubles a woman's risk of developing breast ...

A centuries-old math equation used to solve a modern-day genetics challenge

January 18, 2018
Researchers developed a new mathematical tool to validate and improve methods used by medical professionals to interpret results from clinical genetic tests. The work was published this month in Genetics in Medicine.

Can mice really mirror humans when it comes to cancer?

January 18, 2018
A new Michigan State University study is helping to answer a pressing question among scientists of just how close mice are to people when it comes to researching cancer.

Epigenetics study helps focus search for autism risk factors

January 16, 2018
Scientists have long tried to pin down the causes of autism spectrum disorder. Recent studies have expanded the search for genetic links from identifying genes toward epigenetics, the study of factors that control gene expression ...

Group recreates DNA of man who died in 1827 despite having no body to work with

January 16, 2018
An international team of researchers led by a group with deCODE Genetics, a biopharmaceutical company in Iceland, has partly recreated the DNA of a man who died in 1827, despite having no body to take tissue samples from. ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.