Navigation Links
Scientists discover gene which causes rare disease in babies
Date:5/29/2012

A rare disease which often first presents in newborn babies has been traced to a novel genetic defect, scientists at Queen Mary, University of London have found.

The research, published online in Nature Genetics (27 May) discovered 20 distinct mutations in a specific gene found in patients with the rare adrenal disease, Familial Glucocorticoid Deficiency (FGD).

The potentially fatal disease means affected children are unable to produce a hormone called cortisol which is essential for the body to cope with stress.

Lead researcher Dr Lou Metherell*, endocrine geneticist at Queen Mary, University of London, said: "People who inherit this disease are unable to cope with physical stress. For example, the normal response to infection or traumatic injury is to produce cortisol supporting the metabolic response to the event. Patients with FGD cannot do this and may die if untreated.

"We found 20 distinct defects in the antioxidant gene nicotinamide nucleotide transhydogenase (NNT) in patients from all over the world who suffer from FGD."

The researchers, which include Eirini Meimaridou and Professor Adrian Clark, also at Queen Mary in the William Harvey Research Institute, had previously found defects in four genes present in this disease. The new research uncovered mutations in NNT, an antioxidant gene, which provides a new mechanism for this adrenal disease.

"Patients with this form of FGD exhibit oxidative stress (OS) in the adrenal, a process which is involved in other diseases such as neurodegenerative conditions, cancer, stroke, diabetes and cardiac dysfunction," Professor Clark said.

"If we can discover how the OS causes its effect then this might give us clues to the mechanism in other diseases like those listed above and it may then be possible to use appropriate drugs to reduce or prevent it."


'/>"/>

Contact: Bridget Dempsey
b.dempsey@qmul.ac.uk
44-207-882-7927
Queen Mary, University of London
Source:Eurekalert

Page: 1

Related medicine news :

1. Scientists Pinpoint Area of Brain That Fears Losing Money
2. Scientists Discover How HIV Is Transmitted Between Men
3. Prevention Is Key Research Goal for Premature Babies, Scientists Say
4. Scientists Discover Molecular Pathway for Organ Tissue Regeneration and Repair
5. Scientists find donut-shaped structure of enzyme involved in energy metabolism
6. Neuroscientists reveal new links that regulate brain electrical activity
7. Two UCSF Scientists to Receive Prestigious Dementia Research Honor
8. Johns Hopkins scientists develop personalized blood tests for cancer using whole genome sequencing
9. Scientists Spot Genetic Fingerprints of Individual Cancers
10. Scientists Unravel Mysteries of Intelligence
11. MSU scientists develop more effective method of predicting lead-poisoning risk
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:5/30/2016)... California (PRWEB) , ... May 30, 2016 , ... ... easy to use inside of FCPX," said Christina Austin - CEO of Pixel ... exclusively for use within Final Cut Pro X. Choose from abstract transitions to ...
(Date:5/29/2016)... ... May 29, 2016 , ... Whole Health Supply is happy to announce ... been available via Amazon.com. This new style of nail clipper has a wider jaw ... is approximately 4mm and the actual handle is 2.5mm thick to accommodate the cutting ...
(Date:5/28/2016)... ... May 28, 2016 , ... "Color Grading media can ... drop a preset onto their media," said Christina Austin - CEO of Pixel Film ... can quickly and easily add stylish color grades to their footage. A LUT is ...
(Date:5/27/2016)... ... 27, 2016 , ... More than a third of American adults are considered ... surgery has received increased attention in recent years, as an article published ... weight loss, most people are familiar with the basic requirements of maintaining a healthy ...
(Date:5/27/2016)... ... May 27, 2016 , ... An influential resource amongst nurses and professionals in ... lights on the variety of topics detailing why we appreciate nurses in so many ... career has gone from being in a major recession to one of the hottest ...
Breaking Medicine News(10 mins):
(Date:5/27/2016)... , May 27, 2016 ... biopharmaceutical company focused on late-stage drug development, today ... Pharma of pivotal batches required for registration ... Administration (FDA). This follows Kitov,s announcement ... trial successfully met its primary efficacy endpoint. ...
(Date:5/26/2016)... May 26, 2016 TARE ... Both Cost Savings and Overall Decreased Use ... BTG), an international specialist healthcare company, has today ... 21st Annual Meeting of ISPOR (International Society for ... hepatocellular carcinoma (HCC) using yttrium-90 glass microspheres is ...
(Date:5/25/2016)... GERMANTOWN, Maryland , May 25, 2016 /PRNewswire/ ... dringenden Bedarf zur Steuerung ... N.V. (NASDAQ: QGEN ; Frankfurt Prime ... Entwicklungsvereinbarung mit Therawis Diagnostics GmbH zur Entwicklung und ... sein. Ein erstes Projekt wird die Entwicklung und ...
Breaking Medicine Technology: