" "
Satellite Banner
Genomics
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

Join For Free

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 2,900+ scientific posters on ePosters
  • More than 4,200+ 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.

Related Content

The Genetic Roots of Adolescent Scoliosis
Scientists at the RIKEN Center for Integrative Medical Sciences in collaboration with Keio University in Japan have discovered a gene that is linked to susceptibility of Scoliosis.
Thursday, July 30, 2015
Insights Into A Rare Genetic Disease
Study shows mutation in NGLY1 gene is linked to a genetic disorder with severe consequences.
Tuesday, January 20, 2015
RIKEN: Genome-wide Study Reveals 3 New Susceptibility Loci for Adult Asthma in Japanese Population
The findings appear in Nature Genetics and derive from a genome-wide study of 4836 Japanese individuals.
Monday, August 01, 2011
Genetic Variant Linked to Development of Liver Cancer in Hepatitis C Virus Carriers
The research group conduct a genome-wide study to identify risk factors connecting HVC and HCC.
Monday, July 04, 2011
RIKEN: Mechanism for Stress-induced Epigenetic Inheritance Uncovered in New Study
Results highlight the role of the transcription factor dATF-2 in chromatin assembly, marking a major advance in understanding of non-Mendelian inheritance.
Friday, June 24, 2011
Discovery of DNA Silencing Mechanism Reveals How Plants Protect Their Genome
Researchers have clarified a key epigenetic mechanism by which an enzyme in the model plant Arabidopsis protects cells from harmful DNA elements.
Monday, May 16, 2011
Scientific News
Common Cell Transformed into Master Heart Cell
By genetically reprogramming the most common type of cell in mammalian connective tissue, researchers at the University of Wisconsin—Madison have generated master heart cells — primitive progenitors that form the developing heart.
Genetic Mutation that Prevents Diabetes Complications
The most significant complications of diabetes include diabetic retinal disease, or retinopathy, and diabetic kidney disease, or nephropathy. Both involve damaged capillaries.
Could the Food we Eat Affect Our Genes?
Almost all of our genes may be influenced by the food we eat, according to new research.
Neanderthal DNA Influences Human Disease Risk
Large-scale, evolutionary analysis compares genetic data alongside electronic health records.
Improving Regenerative Medicine
Lab-created stem cells may lack key characteristics, UCLA research finds.
Tick Genome Reveals Secrets of a Successful Bloodsucker
NIH has announced that decipher the genome of the blacklegged tick which could lead to new tick control methods.
"Dark Side" of the Transcriptome
New approach to quantifying gene "read-outs" reveals important variations in protein synthesis and has implications for understanding neurodegenerative diseases.
Individuals' Medical Histories Predicted by their Noncoding Genomes
Researchers have found that analyzing mutations in regions of the genome that control genes can predict medical conditions such as hypertension, narcolepsy and heart problems.
New Source of Mutations in Cancer
Recently, a new mutation signature found in cancer cells was suspected to have been created by a family of enzymes found in human cells called the APOBEC3 family.
Advancing Synthetic Biology
Living systems rely on a dizzying variety of chemical reactions essential to development and survival. Most of these involve a specialized class of protein molecules — the enzymes.
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
2,900+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
4,200+ scientific videos
Close
Premium CrownJOIN TECHNOLOGY NETWORKS PREMIUM FOR FREE!