Gene associated with adolescent idiopathic scoliosis identified

This is a girl with adolescent idiopathic scoliosis (left) and posterior-anterior standing x-ray of spine (right).<br><br>Credit: RIKEN<br>

Their study is published today in the journal Nature Genetics.

AIS is the most common pediatric skeletal disease, affecting approximately 2% of school-age children. The causes of scoliosis remain largely unknown and brace treatment and surgery are the only treatment options. However, many clinical and genetic studies suggest a contribution of genetic factors.

To understand the causes and development of scoliosis, Dr Ikuyo Kou, Dr Shiro Ikegawa and their team have tried to identify genes that are associated with a susceptibility to develop the condition.

By studying the genome of 1,819 Japanese individuals suffering from scoliosis and comparing it to 25,939 Japanese individuals, the team identified a gene associated with a susceptibility to develop scoliosis on chromosome 6. The association was replicated in Han Chinese and Caucasian populations.

The researchers show that the susceptibility gene, GPR126, is highly expressed in cartilage and that suppression of this gene leads to delayed growth and bone tissue formation in the developing spine. GPR126 is also known to play a role in human height and trunk length.

“Our finding suggest the interesting possibility that GPR126 may affect both AIS susceptibility and height through abnormal spinal development and growth,” explain the authors.

“Further functional studies are necessary to elucidate how alterations in GPR126 increase the risk of AIS in humans,” they conclude.

For more information please contact:
Juliette Savin
Global Relations Office
RIKEN
Tel: +81-(0)48-462-1225 / Fax: +81-(0)48-463-3687
email: pr@riken.jp
A picture and a copy of the paper are available on request.
Picture caption: Girl with adolescent idiopathic scoliosis (left) and posterior-anterior standing x-ray of spine (right).

Reference

“Genetic variants in GPR126 are associated with adolescent idiopathic scoliosis.” Kou et al. Nature Genetics 2013, DOI: 10.1038/ng.2639

About RIKEN

RIKEN is Japan's flagship research institute devoted to basic and applied research. Over 2500 papers by RIKEN researchers are published every year in reputable scientific and technical journals, covering topics ranging across a broad spectrum of disciplines including physics, chemistry, biology, medical science and engineering. RIKEN's advanced research environment and strong emphasis on interdisciplinary collaboration has earned itself an unparalleled reputation for scientific excellence in Japan and around the world.

About the Center for Integrative Medical Sciences

The Center for Integrative Medical Sciences, based in Yokohama, aims to develop revolutionary medical therapies based on collaborative projects between researchers from different areas of science. By achieving a deeper understanding of homeostasis, and how the breakdown of homeostasis leads to disease, scientists at IMS are working to develop personalized preventive medicine and personalized medicine that can allow us to lead healthier lives. The centers focuses include genomics, immunology, allergies, inflammation, endocrinology, and the new field of metabolomics.

Media Contact

Juliette Savin EurekAlert!

More Information:

http://www.riken.jp

All latest news from the category: Life Sciences and Chemistry

Articles and reports from the Life Sciences and chemistry area deal with applied and basic research into modern biology, chemistry and human medicine.

Valuable information can be found on a range of life sciences fields including bacteriology, biochemistry, bionics, bioinformatics, biophysics, biotechnology, genetics, geobotany, human biology, marine biology, microbiology, molecular biology, cellular biology, zoology, bioinorganic chemistry, microchemistry and environmental chemistry.

Back to home

Comments (0)

Write a comment

Newest articles

Results for control of pollutants in water

Brazilian scientists tested a simple and sustainable method for monitoring and degrading a mixture of polycyclic aromatic hydrocarbons, compounds present in fossil fuels and industrial waste. An article published in the journal Catalysis…

A tandem approach for better solar cells

Perovskite-based solar cells were first proved in 2009 to have excellent light-absorbing properties of methylammonium lead bromide and methylammonium lead iodide, collectively referred to as lead halide perovskites or, more…

The behavior of ant queens is shaped by their social environment

Specialization of ant queens as mere egg-layers is reversible / Queen behavioral specialization is initiated and maintained by the presence of workers. The queens in colonies of social insects, such…

Partners & Sponsors