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 3D printer inks from the woods
30.05.2017 | Empa - Eidgenössische Materialprüfungs- und Forschungsanstalt

nachricht How circadian clocks communicate with each other
30.05.2017 | 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: Strathclyde-led research develops world's highest gain high-power laser amplifier

The world's highest gain high power laser amplifier - by many orders of magnitude - has been developed in research led at the University of Strathclyde.

The researchers demonstrated the feasibility of using plasma to amplify short laser pulses of picojoule-level energy up to 100 millijoules, which is a 'gain'...

Im Focus: Can the immune system be boosted against Staphylococcus aureus by delivery of messenger RNA?

Staphylococcus aureus is a feared pathogen (MRSA, multi-resistant S. aureus) due to frequent resistances against many antibiotics, especially in hospital infections. Researchers at the Paul-Ehrlich-Institut have identified immunological processes that prevent a successful immune response directed against the pathogenic agent. The delivery of bacterial proteins with RNA adjuvant or messenger RNA (mRNA) into immune cells allows the re-direction of the immune response towards an active defense against S. aureus. This could be of significant importance for the development of an effective vaccine. PLOS Pathogens has published these research results online on 25 May 2017.

Staphylococcus aureus (S. aureus) is a bacterium that colonizes by far more than half of the skin and the mucosa of adults, usually without causing infections....

Im Focus: A quantum walk of photons

Physicists from the University of Würzburg are capable of generating identical looking single light particles at the push of a button. Two new studies now demonstrate the potential this method holds.

The quantum computer has fuelled the imagination of scientists for decades: It is based on fundamentally different phenomena than a conventional computer....

Im Focus: Turmoil in sluggish electrons’ existence

An international team of physicists has monitored the scattering behaviour of electrons in a non-conducting material in real-time. Their insights could be beneficial for radiotherapy.

We can refer to electrons in non-conducting materials as ‘sluggish’. Typically, they remain fixed in a location, deep inside an atomic composite. It is hence...

Im Focus: Wafer-thin Magnetic Materials Developed for Future Quantum Technologies

Two-dimensional magnetic structures are regarded as a promising material for new types of data storage, since the magnetic properties of individual molecular building blocks can be investigated and modified. For the first time, researchers have now produced a wafer-thin ferrimagnet, in which molecules with different magnetic centers arrange themselves on a gold surface to form a checkerboard pattern. Scientists at the Swiss Nanoscience Institute at the University of Basel and the Paul Scherrer Institute published their findings in the journal Nature Communications.

Ferrimagnets are composed of two centers which are magnetized at different strengths and point in opposing directions. Two-dimensional, quasi-flat ferrimagnets...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Marine Conservation: IASS Contributes to UN Ocean Conference in New York on 5-9 June

24.05.2017 | Event News

AWK Aachen Machine Tool Colloquium 2017: Internet of Production for Agile Enterprises

23.05.2017 | Event News

Dortmund MST Conference presents Individualized Healthcare Solutions with micro and nanotechnology

22.05.2017 | Event News

 
Latest News

Reptile vocalization is surprisingly flexible

30.05.2017 | Life Sciences

EU research project DEMETER strives for innovation in enzyme production technology

30.05.2017 | Power and Electrical Engineering

New insights into the ancestors of all complex life

29.05.2017 | Earth Sciences

VideoLinks
B2B-VideoLinks
More VideoLinks >>>