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:7/26/2017)... ... July 26, 2017 , ... “We are thrilled to be partnering with ... to schedule an appointment online in real time,” said Keith English, LocalMed CEO. “Allowing ... directory will bring more Six Month Smiles patients to their providers.” , Each month, ...
(Date:7/26/2017)... ... July 26, 2017 , ... Isodiol ... global cannabis innovator, specializing in the development of pharmaceutical and consumer products, announces ... 2017 to June 30, 2017. Iso International LLC recorded unaudited fiscal Q1 profits ...
(Date:7/26/2017)... ... 26, 2017 , ... BioPlus Specialty Pharmacy (BioPlus), ... of the HCV Treatment Path app (version 4.4.0) to keep health care providers ... All of the latest HCV medications are included in this app, including Vosevi™ ...
(Date:7/25/2017)... , ... July 25, 2017 , ... Summers in Palm ... the air conditioner — think homemade gourmet ice cream, sparkling pools, and mile-high fun. ... shop featuring fun mugs, journals, and other must-have knick knacks. Ice cream and sorbet ...
(Date:7/25/2017)... ... July 25, 2017 , ... SureVest Insurance ... services to communities across North Carolina, is launching a charity event in conjunction ... support for the ongoing fight against bladder cancer. , The Bladder Cancer Advocacy ...
Breaking Medicine News(10 mins):
(Date:7/12/2017)... July 12, 2017  Eli Lilly and Company (NYSE: ... generic companies to resolve pending patent litigation in the U.S. ... regarding the Cialis ® (tadalafil) unit dose ... 26, 2020. As part of the agreement, Cialis exclusivity is ... 2018. "The unit dose patent for Cialis is ...
(Date:7/11/2017)... , July 11, 2017  Sysmex America, ... urinalysis diagnostic testing equipment as well as middleware ... a way to make quality assurance easier and ... "Sysmex is well known for the innovation that ... Quality Monitor elevates quality assurance processes to a ...
(Date:7/10/2017)... -- The Institute for In Vitro Sciences (IIVS), a ... a VITROCELL® inhalation exposure system thanks to a generous ... which is designed to replace animals in inhalation testing, ... airborne test materials in an environment that mimics the ... testing combustible tobacco products, as well as next generation ...
Breaking Medicine Technology: