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:6/23/2017)... , ... June 23, 2017 , ... ... Act (BCRA), their proposed healthcare bill to repeal and replace the Affordable Care ... Senate bill would make significant cuts to Medicaid, a public health insurance program ...
(Date:6/23/2017)... ... June 23, 2017 , ... Everybody has their own ... others prefer to read it, and some people don't like it at all. FindaTopDoc ... what they found: , Erotic literature can give readers a taste of their deepest, ...
(Date:6/23/2017)... ... June 23, 2017 , ... 21 Middle East and South Asia Leaders ... leaders from government, business and civil society in 11 countries across the Middle East ... engaging in a transformative exchange of knowledge and ideas with the leading minds in ...
(Date:6/23/2017)... (PRWEB) , ... June 23, 2017 , ... Ulster University, ... June, 2017 from 9 am to 3 pm to present to graduate students exciting ... is an original curriculum project led by The Health Improvement Service of the ...
(Date:6/23/2017)... ... June 23, 2017 , ... Moore Insurance, an eastern ... access to asset protection and financial planning services, is teaming up with the ... lives of children with cancer and other chronic diseases. , The For A ...
Breaking Medicine News(10 mins):
(Date:6/16/2017)... WAYNE, N.J. , June 16, 2017 Datascope Corp. ... sold by Datascope Corp. for a potential electrical test failure code.     ... PRODUCT PART NUMBER ... CS100 IABP CS300 IABP ... ...
(Date:6/13/2017)... June 13, 2017 Zimmer Biomet Holdings, Inc. (NYSE ... announced that the U.S. Food and Drug Administration (FDA) has ... 2015 relating to its Zhejiang, China ... "The successful clearance of the Warning Letter related ... facility is a measure of the progress we have made ...
(Date:6/9/2017)... , June 9, 2017 More than 400 ... effort to help spread lessons learned from clinical research ... Diabetes Federation (IDF) and Eli Lilly and Company (NYSE: ... second phase of the Bringing Research in Diabetes to ... commitment to helping people with diabetes effectively manage their ...
Breaking Medicine Technology: