(Press-News.org) Researchers from the RIKEN Center for Integrative Medical Sciences have identified a gene that when mutated is responsible for a spectrum of disorders affecting the bones and connective tissue. This finding opens new avenues for research into a diagnosis and treatment for these until now incurable diseases.
The study is published today in the American Journal of Human Genetics.
Spondyloepimetaphyseal dysplasia with joint laxity, type I or SEMD-JL1 is a disorder of the skeleton resulting in short stature and spinal problems starting from birth, and worsening with age. The disease is also known as SEMD Beighton type.
In order to find the gene responsible for the disorder, and Dr Ikegawa and his team examined the entire coding sequence of the genome of 7 individuals suffering from SEMD-JL1 using next-generation sequencing technology.
The researchers found that the study subjects all had mutations that resulted in significant loss of function of the gene B3GALT6, known to be involved in the biosynthesis of an important component of connective tissue.
To the reseachers' surprise, mutations in B3GALT6 were also found in patients suffering from a disorder of the connective tissue called Ehlers-Danlos syndrome progeroid type.
The researchers show that a deficiency in the B3GALT6 enzyme results in a spectrum of disorders affecting various tissues, including the skin, bones, cartilage, tendons and ligaments. Their results indicate that B3GALT6 is essential for the development and the maintenance of these tissues.
B3GALT6 is known to encode for an enzyme involved in the biosynthesis of the glucosaminoglycan (GAG) linker region.
"The GAG linker region is key for GAG biosynthesis and proteoglycan metabolism," explains Dr Ikegawa "and proteoglycans are important because they are a major component of the matrix of connective tissue in animals."
"Our findings show that mutations in B3GALT6 cause a spectrum of disorders that were previously thought to belong to different families of diseases – some were thought to be skeletal dysplasia and others connective tissue disorders," explain the authors.
"More clinical, genetic and biological studies are needed to understand the pathological mechanism of the diseases and the role of GAG metabolism and function," they conclude.
INFORMATION:
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: Representative clinical pictures and X-ray for spondyloepimetaphyseal dysplasia with joint laxity, type 1 (SEMD-JL1) and Ehlers-Danlos syndrome, progeroid type with B3GALT6 mutations.
Reference
"Mutations in B3GALT6 which Encodes a Glycosaminoglycan Linker Region
Enzyme Cause a Spectrum of Skeletal and Connective Tissue Disorders." Nakajima et al. American Journal of Human Genetics 2013, DOI:
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.
Gene identified, responsible for a spectrum of disorders affecting the bones and connective tissue
2013-05-09
ELSE PRESS RELEASES FROM THIS DATE:
Exit discovered in cellular garbage truck
2013-05-09
At the University of Geneva (UNIGE), the team led by Professor Jean Gruenberg has long been interested in the movement of lysosomes, the sub-compartments of cells to where endocytic vesicles deliver their waste content and the molecules destined to be destroyed. Within this context, researcher Christin Bissig, along with her international colleagues, carried out a detailed study of the route taken by Alix which is lodged inside the endosomal membrane. This tailing has highlighted how protein contributes to avoiding cellular digestion, like a door opening into the endosomal ...
Operating without interrupting warfarin reduces risk of bleeding after cardiac device surgery
2013-05-09
DENVER, May 9, 2013 – A new Canadian study shows that operating without interrupting warfarin treatment at the time of cardiac device surgery is safe and markedly reduces the incidence of clinically significant hematomas compared to the current standard of care. The new findings were released today at Heart Rhythm 2013, the Heart Rhythm Society's 34th Annual Scientific Sessions, and will be published online today in The New England Journal of Medicine (NEJM).
At least a quarter of patients that require pacemaker or implantable defibrillator surgery are taking warfarin ...
Scripps Research Institute scientists find key to gene-silencing activity
2013-05-09
LA JOLLA, CA – May 9, 2013 – A team led by scientists at The Scripps Research Institute (TSRI) has found how to boost or inhibit a gene-silencing mechanism that normally serves as a major controller of cells' activities. The discovery could lead to a powerful new class of drugs against viral infections, cancers and other diseases.
"Learning to control natural gene silencing processes will allow an entirely new approach to treating human disease," said Ian J. MacRae, assistant professor in TSRI's Department of Integrative Structural and Computational Biology and principal ...
Studies generate comprehensive list of genes required by innate system to defend sex cells
2013-05-09
Cold Spring Harbor, NY – Two teams of investigators led by Professor Gregory Hannon of Cold Spring Harbor Laboratory (CSHL) today publish studies revealing many previously unknown components of an innate system that defends sex cells – the carriers of inheritance across generations – from the ravages of transposable genetic elements.
When activated, these troublesome segments of DNA, also called jumping genes or transposons, can copy and insert themselves at random spots across the chromosomes. In sperm and egg cells the proliferation of transposons can be particularly ...
Scientists show how nerve wiring self-destructs
2013-05-09
Many medical issues affect nerves, from injuries in car accidents and side effects of chemotherapy to glaucoma and multiple sclerosis. The common theme in these scenarios is destruction of nerve axons, the long wires that transmit signals to other parts of the body, allowing movement, sight and sense of touch, among other vital functions.
Now, researchers at Washington University School of Medicine in St. Louis have found a way the body can remove injured axons, identifying a potential target for new drugs that could prevent the inappropriate loss of axons and maintain ...
No holes in Swiss online networking theory
2013-05-09
Often, it's not what you know, but who you know when it comes to business and research success and that still applies even in the age of online social networking, according to results to be published in the International Journal of Organisational Design and Engineering.
Peter Gloor, Pierre Dorsaz, Hauke Fuehres and Manfred Vogel of the MIT Center for Collective Intelligence, in Cambridge, Massachusetts have compared the success of startup entrepreneurs and innovators with their activity on the social networking sites LinkedIn and Facebook as well as email networks including ...
Toddlers from socially-deprived homes most at risk of scalds, study finds
2013-05-09
Toddlers living in socially-deprived areas are at the greatest risk of suffering a scald in the home, researchers at The University of Nottingham have found.
The study, published in the journal Burns, showed that boys aged between one and two years old and those with multiple siblings were statistically more likely to suffer a hot water-related injury, while children born to mothers aged 40 years and over were at less risk than those with teenage mums.
The results could help GPs and Health Visitors identify those children most at risk of a scald and prevent injuries ...
Scientists demonstrate pear shaped atomic nuclei
2013-05-09
Scientists at the University of Liverpool have shown that some atomic nuclei can assume the shape of a pear which contributes to our understanding of nuclear structure and the underlying fundamental interactions.
Most nuclei that exist naturally are not spherical but have the shape of a rugby ball. While state-of-the-art theories are able to predict this, the same theories have predicted that for some particular combinations of protons and neutrons, nuclei can also assume very asymmetric shapes, like a pear where there is more mass at one end of the nucleus than the ...
Scientists develop device for portable, ultra-precise clocks and quantum sensors
2013-05-09
In a joint project between the Universities of Strathclyde and Glasgow, Imperial College London and the National Physical Laboratory, researchers have developed a portable way to produce ultracold atoms for quantum technology and quantum information processing.
Their research has been published in the journal Nature Nanotechnology, where it is featured on the front cover.
Many of the most accurate measurement devices, including atomic clocks, work by observing how atoms transfer between individual quantum states. The highest precision is obtained with long observation ...
Study finds brain system for emotional self-control
2013-05-09
Different brain areas are activated when we choose to suppress an emotion, compared to when we are instructed to inhibit an emotion, according a new study from the UCL Institute of Cognitive Neuroscience and Ghent University.
In this study, published in Brain Structure and Function, the researchers scanned the brains of healthy participants and found that key brain systems were activated when choosing for oneself to suppress an emotion. They had previously linked this brain area to deciding to inhibit movement.
"This result shows that emotional self-control involves ...