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!
Fish recognize their prey by electric colors
13.11.2018 | Rheinische Friedrich-Wilhelms-Universität Bonn
The dawn of a new era for genebanks - molecular characterisation of an entire genebank collection
13.11.2018 | Leibniz-Institut für Pflanzengenetik und Kulturpflanzenforschung
Biochips have been developed at TU Wien (Vienna), on which tissue can be produced and examined. This allows supplying the tissue with different substances in a very controlled way.
Cultivating human cells in the Petri dish is not a big challenge today. Producing artificial tissue, however, permeated by fine blood vessels, is a much more...
Faster and secure data communication: This is the goal of a new joint project involving physicists from the University of Würzburg. The German Federal Ministry of Education and Research funds the project with 14.8 million euro.
In our digital world data security and secure communication are becoming more and more important. Quantum communication is a promising approach to achieve...
On Saturday, 10 November 2018, the research icebreaker Polarstern will leave its homeport of Bremerhaven, bound for Cape Town, South Africa.
When choosing materials to make something, trade-offs need to be made between a host of properties, such as thickness, stiffness and weight. Depending on the application in question, finding just the right balance is the difference between success and failure
Now, a team of Penn Engineers has demonstrated a new material they call "nanocardboard," an ultrathin equivalent of corrugated paper cardboard. A square...
Physicists at ETH Zurich demonstrate how errors that occur during the manipulation of quantum system can be monitored and corrected on the fly
The field of quantum computation has seen tremendous progress in recent years. Bit by bit, quantum devices start to challenge conventional computers, at least...
09.11.2018 | Event News
06.11.2018 | Event News
23.10.2018 | Event News
13.11.2018 | Life Sciences
13.11.2018 | Life Sciences
13.11.2018 | Awards Funding