Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Scientists discover gene which causes rare disease in babies

30.05.2012
Research finds 20 distinct mutations

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."

* Dr Lou Metherell was funded by the Medical Research Council.

"Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency" was published online in Nature Genetics on 27 May 2012.

Bridget Dempsey | EurekAlert!
Further information:
http://www.qmul.ac.uk

More articles from Life Sciences:

nachricht Complementing conventional antibiotics
24.05.2018 | Goethe-Universität Frankfurt am Main

nachricht Building a brain, cell by cell: Researchers make a mini neuron network (of two)
23.05.2018 | Institute of Industrial Science, The University of Tokyo

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Molecular switch will facilitate the development of pioneering electro-optical devices

A research team led by physicists at the Technical University of Munich (TUM) has developed molecular nanoswitches that can be toggled between two structurally different states using an applied voltage. They can serve as the basis for a pioneering class of devices that could replace silicon-based components with organic molecules.

The development of new electronic technologies drives the incessant reduction of functional component sizes. In the context of an international collaborative...

Im Focus: LZH showcases laser material processing of tomorrow at the LASYS 2018

At the LASYS 2018, from June 5th to 7th, the Laser Zentrum Hannover e.V. (LZH) will be showcasing processes for the laser material processing of tomorrow in hall 4 at stand 4E75. With blown bomb shells the LZH will present first results of a research project on civil security.

At this year's LASYS, the LZH will exhibit light-based processes such as cutting, welding, ablation and structuring as well as additive manufacturing for...

Im Focus: Self-illuminating pixels for a new display generation

There are videos on the internet that can make one marvel at technology. For example, a smartphone is casually bent around the arm or a thin-film display is rolled in all directions and with almost every diameter. From the user's point of view, this looks fantastic. From a professional point of view, however, the question arises: Is that already possible?

At Display Week 2018, scientists from the Fraunhofer Institute for Applied Polymer Research IAP will be demonstrating today’s technological possibilities and...

Im Focus: Explanation for puzzling quantum oscillations has been found

So-called quantum many-body scars allow quantum systems to stay out of equilibrium much longer, explaining experiment | Study published in Nature Physics

Recently, researchers from Harvard and MIT succeeded in trapping a record 53 atoms and individually controlling their quantum state, realizing what is called a...

Im Focus: Dozens of binaries from Milky Way's globular clusters could be detectable by LISA

Next-generation gravitational wave detector in space will complement LIGO on Earth

The historic first detection of gravitational waves from colliding black holes far outside our galaxy opened a new window to understanding the universe. A...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

Save the date: Forum European Neuroscience – 07-11 July 2018 in Berlin, Germany

02.05.2018 | Event News

Invitation to the upcoming "Current Topics in Bioinformatics: Big Data in Genomics and Medicine"

13.04.2018 | Event News

Unique scope of UV LED technologies and applications presented in Berlin: ICULTA-2018

12.04.2018 | Event News

 
Latest News

When corals eat plastics

24.05.2018 | Ecology, The Environment and Conservation

Surgery involving ultrasound energy found to treat high blood pressure

24.05.2018 | Medical Engineering

First chip-scale broadband optical system that can sense molecules in the mid-IR

24.05.2018 | Physics and Astronomy

VideoLinks
Science & Research
Overview of more VideoLinks >>>