Navigation Links
Cushing's syndrome: A genetic basis for cortisol excess
Date:2/27/2014

An international team of researchers led by an endocrinologist at Ludwig-Maximilians-Universitaet (LMU) in Munich has identified genetic mutations that result in uncontrolled synthesis and secretion of the stress hormone cortisol.

Cortisol is a hormone that is produced by the adrenal gland in response to stressful events, and modulates a whole spectrum of physiological processes. An international research collaboration has now identified genetic mutations that lead to the production and secretion of cortisol in the absence of an underlying stressor.

The discovery emerged from the genetic characterization of benign tumors of the adrenal gland which produce cortisol in excess amounts. Patients who develop such tumors suffer from weight gain, muscle wasting, osteoporosis, diabetes and hypertension. This condition, known as Cushing's syndrome, can be successfully treated by surgical removal of the affected adrenal gland.

Overproduction of cortisol

The team, which included researchers from Germany, France and the US and was led by Professors Felix Beuschlein and Martin Fassnacht of the LMU Medical Center, were able to show that in one-third of a patient population with such adrenal tumors, a mutation in the gene for the enzyme phosphokinase A was specifically associated with the continuous production of cortisol. This mutation had occurred in the adrenal gland and is therefore restricted to the tumor cells. The results have just appeared in the prestigious New England Journal of Medicine.

"The gene for phosphokinase A plays a key role in the regulation of adrenal gland function, and the newly identified mutation causes it to become irreversibly activated, which results in the unrestrained production of cortisol," says Felix Beuschlein. In collaboration with a group at the US National Institutes of Health, the team was also able to identify patients who carry similar genetic alterations in their germline DNA. In these families, Cushing's syndrome occurs as a heritable genetic disease.

The elucidation of the genetic mechanism responsible for a significant fraction of cases of Cushing's syndrome provides a new diagnostic tool, and may also lead to new approaches to treatment. To enable further investigations towards this end, the German Cushing Register, which is maintained by Professor Martin Reincke at the LMU Medical Center, has received a grant of 400,000 euros from the Else Krner-Fresenius Foundation. A recently initiated European research consortium devoted to the study of Cushing's syndrome, of which Professors Beuschlein and Fassnacht are members is supported by a grant of 700,000 euros from the ERA-NET program administered by the Federal Ministry for Education and Research.


'/>"/>
Contact: Luise Dirscherl
presse@lmu.de
49-892-180-2706
Ludwig-Maximilians-Universitt Mnchen
Source:Eurekalert

Related medicine news :

1. Metabolic Syndrome: Breaking the Cycle Report and Video Released by Health News Wires
2. Metabolic Syndrome: Understanding the Risk and Treatment Published by Health News Wires
3. Second impact syndrome: A devastating injury to the young brain
4. LA BioMed researchers report on promising new therapy for devastating genetic disorder
5. Gender influences symptoms of genetic disorder
6. Penn study reveals genetics impact risk of early menopause among some female smokers
7. Rare genetic variations may account for severe reaction to LABA drugs in some people
8. Genetic counseling via telephone as effective as in-person counseling
9. New project on psychiatric, neurologic, and behavioral genetics
10. The epigenetics of breast cancer family history
11. Genetic clue to fighting new strains of flu
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:5/25/2016)... ... May 25, 2016 , ... The Georgia State University College of Law ... Atlanta Urban Design Commission. , The annual award recognizes projects, programs, individuals and organizations ... the preservation of its physical heritage and the balance between the old and the ...
(Date:5/25/2016)... The Netherlands (PRWEB) , ... May 25, 2016 , ... ... unprecedented freedom of movement to motion capture, all by utilizing a common Wi-Fi network ... allows users to transmit data from any location with Wi-Fi, and use a mobile ...
(Date:5/25/2016)... ... , ... One Florida-based plastic surgeon’s enthusiasm is proving to be contagious among ... May 13th on Vanity Fair. In fact, as the article explains, more than a ... more than 800,000 Snapchat fans. Commenting on this trend, Dr. Michael Salzhauer, also known ...
(Date:5/25/2016)... ... 2016 , ... The Bank of America Charitable Foundation has awarded a grant ... a pathway to employment and successful careers in healthcare. On Wednesday, May 4th, Rick ... and CEO of Medisend, parent organization and home of the General Myers Veterans Program. ...
(Date:5/25/2016)... ... May 25, 2016 , ... New studies published today by ... across 15 states. The outcomes examined in these studies include recovery of physical ... satisfaction with medical care. , “The goal of the studies is to provide ...
Breaking Medicine News(10 mins):
(Date:5/25/2016)... MedDay, a biotechnology company focused on the treatment ... "High doses of biotin in progressive multiple sclerosis: extension phase ... Ayman Tourbah , Principal Investigator of the Phase 3 ... Neurology (EAN) in Copenhagen, Denmark . The ... on Sunday, 29 May 2016 from 14:45 to 16:15 CEST ...
(Date:5/25/2016)... 25, 2016 ReportsnReports.com adds ... report that provides an overview on therapeutic pipeline ... various stages, therapeutics assessment by drug target, mechanism ... molecule type, along with latest updates, and featured ... players involved in the therapeutic development for Chronic ...
(Date:5/24/2016)... Cirujanos holandeses han puesto en marcha una ... compartir sus mejores prácticas por el mundo y tratar ... Europa, África, Asia y Estados ... combina la transmisión en vivo con mensajería instantánea y ... "Imagine un médico de Medicines sans Frontieres ...
Breaking Medicine Technology: