Corporate Banner
Satellite Banner
Next Gen Sequencing
Scientific Community
 
Become a Member | Sign in
Home>News>This Article
  News
Return

Gene Identified Responsible for Disorders of Bones and Connective Tissue

Published: Monday, May 13, 2013
Last Updated: Monday, May 13, 2013
Bookmark and Share
Researchers have identified a gene that when mutated is responsible for a spectrum of disorder.

This finding opens new avenues for research into the diagnosis and treatment of these previously incurable diseases.

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, 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.


Further Information
Access to this exclusive content is for Technology Networks Premium members only.

Join Technology Networks Premium for free access to:

  • Exclusive articles
  • Presentations from international conferences
  • Over 2,400+ scientific posters on ePosters
  • More than 3,700+ scientific videos on LabTube
  • 35 community eNewsletters


Sign In



Forgotten your details? Click Here
If you are not a member you can join here

*Please note: By logging into TechnologyNetworks.com you agree to accept the use of cookies. To find out more about the cookies we use and how to delete them, see our privacy policy.


Scientific News
DNA Damage Seen in Patients Undergoing CT Scanning
Along with the burgeoning use of advanced medical imaging tests over the past decade have come rising public health concerns about possible links between low-dose radiation and cancer.
Web App Helps Researchers Explore Cancer Genetics
Brown University computer scientists have developed a new interactive tool to help researchers and clinicians explore the genetic underpinnings of cancer.
New Research Advances Genetic Studies in Wildlife Conservation
‘Next-gen’ DNA sequencing of non-invasively collected hair expands field of conservation genetics.
Gene Testing Now Allows Precision Medicine for Thoracic Aneurysms
Researchers at the Aortic Institute at Yale have tested the genomes of more than 100 patients with thoracic aortic aneurysms, a potentially lethal condition, and provided genetically personalized care.
OGT’s Popular ESHG Workshop Free to View Online
Learn about the next generation of microarrays in one of the best attended workshops of the conference.
Discordant NIPT Test Results May Reflect Presence of Maternal Cancer
Results published in Journal of the American Medical Association.
Sperm RNA Test May Improve Evaluation of Male Infertility
To help resolve uncertainty—and guide prospective parents to the right fertility treatments—scientists propose the use of a new kind of fertility test. It involves examining sperm RNA by means of next-generation sequencing.
How the Mammoth Got its Wool
Evolutionary change in a gene reconstructed in the lab from the woolly mammoth was part of a suite of adaptations that allowed the mammoth to survive in harsh arctic environments, according to new research.
NuGEN Scientists Screen 400+ Genes for Fusion Events in Single Assay
Breakthrough proves efficacy of new sample preparation method that could accelerate cancer research and development of treatments and diagnostic tests.
More Accurate and Comprehensive Whole Genome Assembly
Scientists from the Icahn School of Medicine at Mount Sinai have developed a new approach to build nearly complete genomes by combining high-throughput DNA sequencing with genome mapping.
Skyscraper Banner

Skyscraper Banner
Go to LabTube
Go to eposters
 
Access to the latest scientific news
Exclusive articles
Upload and share your posters on ePosters
Latest presentations and webinars
View a library of 1,800+ scientific and medical posters
2,400+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
3,700+ scientific videos
Close
Premium CrownJOIN TECHNOLOGY NETWORKS PREMIUM FREE!