Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Researchers Unlock Genetic Secrets to Developmental Dysplasia of the Hip

06.06.2013
Research from Thomas Jefferson University is laying the foundation for a genetic test to accurately identify hip dysplasia in newborns so that early intervention can be initiated to promote normal development.

This research from Jefferson Orthopedics physician-scientists is currently available in the Journal of Bone and Mineralizing Research (JBMR) online at http://onlinelibrary.wiley.com/doi/10.1002/jbmr.1999/abstract.

The researchers studied four generations of a Utah family affected by developmental dysplasia of the hip (DDH) in most generations.

One in 1,000 newborns is affected by DDH. Its grossest forms are easily detected at birth, though mild cases often go undetected and are the leading cause of premature degeneration of the hip joint among 20-40 year olds—accounting for 40 percent of such cases.

In patients with DDH the acetabulum never completely forms around the head of the femur, leading to dislocation of the femur, difficult joint function and accelerated wear of the articular cartilage, resulting in arthritis.

“If we can detect DDH susceptibility earlier, we can employ non-invasive therapies to allow the hip socket to fully develop in newborns,” says George Feldman, PhD, DMD, assistant professor of Orthopaedics at Thomas Jefferson University and lead investigator on the study. Interventions such as the Pavlik harness gently position the baby’s hips so that they are appropriately aligned in the joint and the hip joint is secure, facilitating normal growth and development.

“We know that DDH has genetic and environmental factors. Moreover there are certain pockets of high prevalence in Japan, Italy and Mediterranean countries,” says Dr. Feldman.

A large 72-member, four-generation Utah family affected by DDH in most generations—one of the largest documented families showing inter-generational transmission of DDH— was approached by Jefferson researchers and their colleagues at the University of Utah to participate in this study.

Among the members of the family – who the researchers tested at a family reunion - 11 had three or more signs of DDH and were considered to be unequivocably affected. Thirteen individuals had one or two signs of DDH and a questionable diagnosis. DNA analysis showed a mutation co-inherited by all affected family members.

This variant is a genetic mutation on chromosome 3 in a chemokine receptor which functions as a receptor for a chemical messenger that may affect the maturation of cartilage forming cells, possibly delaying their development.

Even some of those who had fewer signs of the disease were also found to have the disease variant.

“The lack of overt signs of DDH among some members of the family who transmitted the DNA variant is understandable in light of the fact that DDH is a complex disorder with genetic, epigenetic and environmental causes,” says Dr. Feldman. Environmental risk factors include breech presentation at birth, low levels of amniotic fluid during pregnancy and bearing only one child.

Feldman thanks the family for helping the researchers better understand the genetics of DDH in order to help protect future generations from the disease. “Their contribution was essential to our research and has advanced the study of DDH,” he says.

The genetic mutations complete effect on the development of the acetabulum in DDH patients is currently under investigation in animal models. In addition, further testing of the overall DDH population is being performed to determine the prevalence of this mutation.

While this study shows a significant genetic risk factor shared by family members, it is not yet clear how this translates to the rest of the affected DDH population, but it has allowed researchers to move closer to a sensitive and specific test for the genetic variants that cause DDH. “If this could be achieved,” says Dr. Feldman, “It could make a huge difference for these patients later in life. We think we may have found a clue to DDH susceptibility that has eluded the orthopedic community for a long time.”

Thomas Jefferson University
Thomas Jefferson University (TJU), the largest freestanding academic medical center in Philadelphia, is nationally renowned for medical and health sciences education and innovative research. Founded in 1824, TJU includes Jefferson Medical College (JMC), one of the largest private medical schools in the country and ranked among the nation’s best medical schools by U.S. News & World Report, and the Jefferson Schools of Nursing, Pharmacy, Health Professions, Population Health and the College of Graduate Studies. Jefferson University Physicians is TJU’s multi-specialty physician practice consisting of the full-time faculty of JMC. Thomas Jefferson University partners with its clinical affiliate, Thomas Jefferson University Hospitals.

Lee-Ann Landis | Newswise
Further information:
http://www.jefferson.edu

More articles from Life Sciences:

nachricht Channels for the Supply of Energy
19.11.2018 | Albert-Ludwigs-Universität Freiburg im Breisgau

nachricht Vine Compound Starves Cancer Cells
19.11.2018 | Julius-Maximilians-Universität Würzburg

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: UNH scientists help provide first-ever views of elusive energy explosion

Researchers at the University of New Hampshire have captured a difficult-to-view singular event involving "magnetic reconnection"--the process by which sparse particles and energy around Earth collide producing a quick but mighty explosion--in the Earth's magnetotail, the magnetic environment that trails behind the planet.

Magnetic reconnection has remained a bit of a mystery to scientists. They know it exists and have documented the effects that the energy explosions can...

Im Focus: A Chip with Blood Vessels

Biochips have been developed at TU Wien (Vienna), on which tissue can be produced and examined. This allows supplying the tissue with different substances in a very controlled way.

Cultivating human cells in the Petri dish is not a big challenge today. Producing artificial tissue, however, permeated by fine blood vessels, is a much more...

Im Focus: A Leap Into Quantum Technology

Faster and secure data communication: This is the goal of a new joint project involving physicists from the University of Würzburg. The German Federal Ministry of Education and Research funds the project with 14.8 million euro.

In our digital world data security and secure communication are becoming more and more important. Quantum communication is a promising approach to achieve...

Im Focus: Research icebreaker Polarstern begins the Antarctic season

What does it look like below the ice shelf of the calved massive iceberg A68?

On Saturday, 10 November 2018, the research icebreaker Polarstern will leave its homeport of Bremerhaven, bound for Cape Town, South Africa.

Im Focus: Penn engineers develop ultrathin, ultralight 'nanocardboard'

When choosing materials to make something, trade-offs need to be made between a host of properties, such as thickness, stiffness and weight. Depending on the application in question, finding just the right balance is the difference between success and failure

Now, a team of Penn Engineers has demonstrated a new material they call "nanocardboard," an ultrathin equivalent of corrugated paper cardboard. A square...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

“3rd Conference on Laser Polishing – LaP 2018” Attracts International Experts and Users

09.11.2018 | Event News

On the brain’s ability to find the right direction

06.11.2018 | Event News

European Space Talks: Weltraumschrott – eine Gefahr für die Gesellschaft?

23.10.2018 | Event News

 
Latest News

How Humans and Machines Navigate Complex Situations

19.11.2018 | Science Education

Finding plastic litter from afar

19.11.2018 | Ecology, The Environment and Conservation

Channels for the Supply of Energy

19.11.2018 | Life Sciences

VideoLinks
Science & Research
Overview of more VideoLinks >>>