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

Gene that Causes Obesity-Related Metabolic Syndrome Identified

Published: Friday, May 16, 2014
Last Updated: Friday, May 16, 2014
Bookmark and Share
Yale-led research has identified a genetic mutation responsible for the cluster of cardiovascular risk factors that comprise the obesity-related “metabolic syndrome.”

Until now, genetic analysis has been successful in identifying mutations that predispose people to individual risk factors. Success has been more limited, however, in mapping mutations responsible for the constellation of disorders that include obesity, high blood pressure, and elevated blood sugar levels that, when combined, greatly increase the risk of cardiovascular disease, heart failure, and diabetes. Together, these conditions are known as metabolic syndrome.

The researchers studied three large families with familial, or inherited central obesity, early-onset coronary artery disease, hypertension, and diabetes. Using whole-exome sequencing, they identified a so-called “founder mutation” — a genetic abnormality that begins in one ancestor and repeats through successive generations of a family.

The mutation was in the gene Dyrk1B, an enzyme that regulates the balance of muscle to fat as well as stable glucose levels by controlling the signaling pathways. When mutated, the researchers found, Dyrk1B inhibited pathways that keep glucose levels stable, and “turned on” the pathways that promote the production of fat on the body.

The mutation was present in all family members affected by metabolic syndrome, and absent in those who were unaffected.

The researchers believe this mutated gene is the likely reason why patients with it have reduced muscle mass but increased fat mass, even at a very young age. “The entire pathway of this gene seems to be linked with glucose and fat metabolism, through the differentiation of stem cells into muscle, bone, cartilage, and fat tissue,” said senior author Dr. Arya Mani, associate professor of cardiology and genetics and member of the Yale Cardiovascular Research Center. “Our findings suggest that mutation in genes that regulate the fate of these cells can result in more fat instead of muscle.”

Mani adds that animal studies suggest the activation of genes like Dyrk1B may actually increase appetite and cause weight gain. Therefore, he notes, because the gene is a protein kinase, which modifies other proteins, it may be an excellent target for potential therapies that restore balance and reduce or eliminate the impact of the genetic mutation.

“The advantage of Dyrk1B as an obesity gene is that its inhibition may not only reduce body weight, but favorably affect other risk factors,” adds first author Dr. Ali Keramati, resident in internal medicine at Yale School of Medicine.

The study appears in the May 15 issue of the New England Journal of Medicine.


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 2,500+ scientific posters on ePosters
  • More than 3,800+ 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

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.
Monday, July 20, 2015
After a Sip of Milkshake, Genes and Brain Activity Predict Weight Gain
The new study published in The Journal Neuroscience.
Thursday, May 21, 2015
Gene Editing Corrects Mutation In Cystic Fibrosis
Yale researchers successfully corrected the most common mutation in the gene that causes cystic fibrosis, a lethal genetic disorder.
Monday, April 27, 2015
Single-Cell, 42-plexed Protein Analysis Achieved with a New Microchip Technology
A novel microdevice capable of detecting 42 unique immune effector proteins has been developed.
Tuesday, February 17, 2015
New Class of Synthetic Molecules Mimics Antibodies
A Yale University lab has crafted the first synthetic molecules that have both the targeting and response functions of antibodies.
Wednesday, December 24, 2014
Immune Cells get Cancer-Fighting Boost From Nanomaterials
Yale researchers used bundled carbon nanotubes to incubate cytotoxic T cells.
Monday, August 18, 2014
Tsetse Fly Genome Sequenced
Research opens the door to scientific breakthroughs that could reduce or end African sleeping sickness in sub-Saharan Africa.
Friday, April 25, 2014
Deleting Single Gene Reduces Fat in Mice
By deleting a single gene, researchers at Yale University were able to dramatically reduce fat mass in mice while expanding their lifespan by 20%.
Tuesday, March 25, 2014
Genetic Mutation Causes Lupus in Mice
Discovery could open the way for development of therapies that target the mutation.
Tuesday, January 07, 2014
Yale’s Lifton Receives $3 Million Science Prize
Richard Lifton has received a $3 million Breakthrough Prize in Life Sciences, created by top Silicon Valley entrepreneurs.
Monday, December 16, 2013
Follow the Genes: Yale Team Finds Clues to Origin of Autism
A team of researchers has pinpointed which cell types and regions of the developing human brain are affected by gene mutations linked to autism.
Wednesday, November 27, 2013
Yale and Harvard Researchers Rewrite an Entire Genome
Scientists recoded the entire genome of an organism and improved a bacterium’s ability to resist viruses.
Friday, October 18, 2013
Awakening Genes that Suppress Tumors
When genes that normally suppress tumor growth are themselves suppressed, cancer cells can grow and proliferate uncontrollably.
Tuesday, October 15, 2013
New Study Changes View about the Genetics of Leukemia Risk
A gene that helps keep blood free of cancer is controlled by tiny pieces of RNA, a finding that may lead to better ways to diagnose blood cancers.
Tuesday, October 15, 2013
Analysis of Little-Explored Regions of Genome Reveals Dozens of Cancer Triggers
A massive data analysis of natural genetic variants in humans and variants in cancer tumors has implicated dozens of mutations in the development of breast and prostate cancer.
Friday, October 04, 2013
Scientific News
Poor Survival Rates in Leukemia Linked to Persistent Genetic Mutations
For patients with an often-deadly form of leukemia, new research suggests that lingering cancer-related mutations – detected after initial treatment with chemotherapy – are associated with an increased risk of relapse and poor survival.
Searching Big Data Faster
Theoretical analysis could expand applications of accelerated searching in biology, other fields.
Growing Hepatitis C in the Lab
Recent discovery allows study of naturally occurring forms of hepatitis C virus (HCV) in the lab.
Inciting an Immune Attack on Cancer Cells
A new minimally invasive vaccine that combines cancer cells and immune-enhancing factors could be used clinically to launch a destructive attack on tumors.
Reprogramming Cancer Cells
Researchers on Mayo Clinic’s Florida campus have discovered a way to potentially reprogram cancer cells back to normalcy.
Genetic Overlapping in Multiple Autoimmune Diseases May Suggest Common Therapies
CHOP genomics expert leads analysis of genetic architecture, with eye on repurposing existing drugs.
Surprising Mechanism Behind Antibiotic-Resistant Bacteria Uncovered
Now, scientists at TSRI have discovered that the important human pathogen Staphylococcus aureus, develops resistance to this drug by “switching on” a previously uncharacterized set of genes.
How DNA ‘Proofreader’ Proteins Pick and Edit Their Reading Material
Researchers from North Carolina State University and the University of North Carolina at Chapel Hill have discovered how two important proofreader proteins know where to look for errors during DNA replication and how they work together to signal the body’s repair mechanism.
Fat in the Family?
Study could lead to therapeutics that boost metabolism.
Tissue Bank Pays Dividends for Brain Cancer Research
Checking what’s in the bank – the Brisbane Breast Bank, that is – has paid dividends for UQ cancer researchers.
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
2,500+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
3,800+ scientific videos
Close
Premium CrownJOIN TECHNOLOGY NETWORKS PREMIUM FREE!