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:1/16/2017)... ... 2017 , ... St. Louisans are well-aware of the following facts at present:, ... seems to be having no effect on keeping this particularly bad strain of the flu ... are coughing, sneezing, or sniffling , These facts are well-known among the ...
(Date:1/16/2017)... CA (PRWEB) , ... January 16, 2017 , ... San ... of iTero Element, the latest in 3-D scanning device which is capable of taking ... the latest advances in dentistry, such as CAD CAM restorations , in terms ...
(Date:1/15/2017)... ... January 15, 2017 , ... Whole Health Supply, LLC is announcing the release of ... also new avenues for purchase. , The 2017 edition has wide jaws that will ... the older boomers as well as diabetics. This handle is reinforced for extra strength when ...
(Date:1/15/2017)... ... 15, 2017 , ... The Gravity Vault Indoor Rock Climbing Gym is excited ... up on the 14,000+ square foot climbing gym, the owners anticipate to open sometime ... New Jersey and two in New York. With this being its first location in ...
(Date:1/14/2017)... ... 14, 2017 , ... "TransFreeze Volume 3 is a self animating masking transition which allows users ... Pro X," said Christina Austin - CEO of Pixel Film Studios. , TransFreeze Volume ... from one clip to the next. , To use “Cut-Out First” presets, choose ...
Breaking Medicine News(10 mins):
(Date:1/16/2017)... and PUNE, India , January 16, 2017 ... Market Research, titled, "Vital Signs Monitoring Devices Market by Type ... projects that the global vital signs monitoring devices market size ... reach $5,491 million by 2022, growing at a CAGR of ... was the leading regional market in global vital signs ...
(Date:1/16/2017)... , January 16, 2017 ... Derivatives Market by Product Type (Methyl, Ethyl, Hydroxyethyl, ... Foods & Beverages, Surface Coatings & Paints), ... by MarketsandMarkets, the market was valued at ... projected to reach USD 6.41 Billion by ...
(Date:1/16/2017)... --  Linde Gas North America LLC  today announced that ... of The Service Center LLC, a market leading provider of ... in the Midwest and Southeast regions of the U.S. ... The Service Center also has facilities in Southfield, ... . Its primary services include: Medical ...
Breaking Medicine Technology: