Corporate Banner
Satellite Banner
Technology
Networks
Scientific Communities
 
Become a Member | Sign in
Home>News>This Article
  News
Return

Two Copies of Mutant Gene May Trigger Rare Adrenal Disorder

Published: Friday, November 29, 2013
Last Updated: Friday, November 29, 2013
Bookmark and Share
Mutation found by NIH, French team may allow for early identification of patients.

Many cases of a rare disorder of the adrenal glands appear to result from two copies of a mutant gene, according to a research team made up of scientists in France and at the U.S. National Institutes of Health.

The adrenal disorder, Corticotropin-independent macronodular adrenal hyperplasia, results in the formation of numerous tumors in the adrenal glands located on top of the kidneys, and which produce hormones that help the body respond to stress. The condition is one of many causes of Cushing’s syndrome, a group of symptoms resulting from an excess of cortisol, a stress hormone. Untreated, Cushing syndrome can result in high blood pressure, heart disease, bone loss, diabetes, and other health problems.

The researchers found that about a third of a group of patients with corticotropin-independent macronodular adrenal hyperplasia had mutations in both copies of a gene, designated ARMC5. This gene is thought to play a role in preventing tumors from forming. One copy of the gene occurred in all the patients’ cells, and the second copy was found only in the cells of the patients’ adrenal tumors.

Single copies of the mutant AMRC5 gene were also found in some of the family members of patients who took part in the study. Most of the family members with only one copy of the mutant gene had not developed corticotropin-independent macronodular adrenal hyperplasia and did not have Cushing’s syndrome.

Based on these observations, the researchers believe that it’s necessary to have two copies of the mutant gene to develop corticotropin-independent macronodular adrenal hyperplasia. The first mutation likely arises before birth, and occurs in all the cells of the body. Presumably, the second mutation arises sometime later in life, in the cells of the adrenal gland. The tumors then develop in the adrenal glands after the second mutation has occurred. The researchers are unsure why the second mutation develops, and why the tumors appear in the adrenal glands and not in some other part of the body.

“Because they often don’t cause any obvious symptoms, adrenal tumors may go undiagnosed for many years,” explained study co-author Constantine A. Stratakis, M.D., of the Division of Intramural Research at the Eunice Kennedy ShriverNational Institute of Child Health and Human Development (NICHD). “If we could screen family members for the ARMC5gene, we could monitor their cortisol levels and treat them after the first sign of Cushing’s syndrome, and avoid the long-term consequences of the disorder.”

The study’s first author was Guillaume Assie, M.D., Ph.D. Along with NICHD’s Stratakis, the study also included senior author Jerome Bertherat, M.D., of the Cochin Institute, in Paris, and scientists at other French research institutions.

The study findings appear in the New England Journal of Medicine.

“Apparently, quite a few individuals with the single mutation do not go on to develop tumors,” Dr. Bertherat said. “Now that we have discovered this connection with ARMC5, we would like to investigate what happens to allow the secondary mutations in adrenal tissue that precede the development of tumors.”


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 3,500+ scientific posters on ePosters
  • More Than 5,000+ 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

Developing Novel Ear Infection Treatments
Research team engineers antibiotic gel for treating middle ear infections.
Wednesday, September 28, 2016
“Sixth Sense” More Than a Feeling
NIH study of rare genetic disorder reveals importance of touch and body awareness.
Monday, September 26, 2016
“Sixth Sense” May Be More Than Just A Feeling
The NIH Study shows that two young patients with a mutation in the PIEZ02 have problems with touch and proprioception, or body awareness.
Friday, September 23, 2016
The Genetics of Blood Pressure
Researchers have identifed areas of the genome associated with blood-pressure including 17 previously unknown loci.
Wednesday, September 21, 2016
NIH Study Finds Link Between Depression, Gestational Diabetes
Researchers at NIH have discovered that the depression in early pregnancy doubles risk for gestational diabetes, and gestational diabetes increases risk for postpartum depression.
Tuesday, September 20, 2016
Detecting Bacterial Infections in Newborns
Researchers tested an alternative way to diagnose bacterial infections in infants—by analyzing RNA biosignatures from a small blood sample.
Wednesday, September 14, 2016
Finding Compounds That Inhibit Zika
Researchers identified compounds that inhibit the Zika virus and reduce its ability to kill brain cells.
Wednesday, September 14, 2016
Seeking Innovation to Combat Antimicrobial Resistance
Federal prize competition, with $20 million in prizes, seeks to develop new laboratory diagnostic tools to detect and distinguish antibiotic resistant bacteria.
Friday, September 09, 2016
Genetic Misdiagnoses of Heart Condition
Analysis found several genetic variations previously linked with a heart condition were harmless, leading to condition misdiagnosis.
Wednesday, September 07, 2016
Catalogue of Human Genetic Diversity Expands
The largest data set of human exomes to date has been assembled to better study seqence variants and their consequences.
Wednesday, September 07, 2016
Extreme Temperatures Could Increase Preterm Birth Risk
Researchers at NIH have found more preterm births among women exposed to extremes of hot and cold.
Friday, September 02, 2016
$12.4M Awarded to Neural Regeneration Projects
The National Institutes of Health will fund six projects to identify biological factors that influence neural regeneration.
Friday, September 02, 2016
Oxygen Can Impair Cancer Immunotherapy
Researchers have identified a mechanism within the lungs where anticancer immune resposnse is inhibited.
Friday, August 26, 2016
Diagnosing Bacterial Infections in Blood Samples
Researchers have diagnosed a bacterial infection from a blood sample in infants.
Wednesday, August 24, 2016
Stem Cell Therapy Heals Injured Mouse Brain
A team of researchers has developed a therapeutic technique that dramatically increases the production of nerve cells in mice with stroke-induced brain damage.
Tuesday, August 23, 2016
Scientific News
Point of Care Diagnostics - A Cautious Revolution
Advances in molecular biology, coupled with the miniaturization and improved sensitivity of assays and devices in general, have enabled a new wave of point-of-care (POC) or “bedside” diagnostics.
Mass Spec Technology Drives Innovation Across the Biopharma Workflow
With greater resolving power, analytical speed, and accuracy, new mass spectrometry technology and techniques are infiltrating the biopharmaceuticals workflow.
One Step Closer to Precision Medicine for Chronic Lung Disease Sufferers
A study led by University of North Carolina at Chapel Hill, and National Jewish Health, has provided evidence of links between SNPs and known COPD blood protein biomarkers.
Blood Pressure Drug May Boost Effectiveness of Lung Cancer Treatment
Researchers at Imperial College London have suggested that the blood pressure drug may make a type of lung cancer treatment more effective.
Insight into Eye Diseases
Scientists recreate zebrafish cell regeneration from retinal stem cells in mice.
New Discovery May Benefit Farmers Worldwide
Scientists have shown how a crop-microbe 'team' protect against fungal infection.
Antibodies Paving the Way to HIV Vaccine
Researchers uncover factors responsible for the formation of broadly neutralizing HIV antibodies in humans.
Designing Drugs with a Whole New Toolbox
Researchers develop methods to design small, targeted proteins with shapes not found in nature.
Protein Studies Discover Molecular Secrets
Two protein studies have mapped proteins that reveal the secrets to recycling carbon and healing cells.
Tapping Evolution to Improve Biotech Products
Researchers show how 'ancestral sequence reconstruction' can be used to guide engineering of a blood clotting protein.
Scroll Up
Scroll Down
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
3,500+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
5,000+ scientific videos
Close
Premium CrownJOIN TECHNOLOGY NETWORKS PREMIUM FOR FREE!