Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Cause of genetic disorder found in 'dark matter' of DNA

11.11.2013
For the first time, scientists have used new technology which analyses the whole genome to find the cause of a genetic disease in what was previously referred to as 'junk DNA'

For the first time, scientists have used new technology which analyses the whole genome to find the cause of a genetic disease in what was previously referred to as "junk DNA".

Pancreatic agenesis results in babies being born without a pancreas, leaving them with a lifetime of diabetes and problems digesting food. In a breakthrough for genetic research, teams led by the University of Exeter Medical School and Imperial College London found that the condition is most commonly caused by mutations in a newly identified gene regulatory element in a remote part of the genome, which can now be explored thanks to advances in genetic sequencing.

In a study published today (November 10 2013) in Nature Genetics, the team discovered that the condition is caused by mutations in genomic "dark matter", the vast stretches of DNA that do not contain genes that accounts for 99 per cent of the human genome. Instead, it is responsible for making sure that genes are "switched on" at the right time and in the right part of the body. The effects of this region on human development is only beginning to be understood, thanks to technologies which allow scientists to analyse the whole genome – all 3 billion letters in our DNA codes.

The research was funded through the Wellcome Trust, the European Community's Seventh Framework Programme and the National Institute for Health Research (NIHR) Exeter Clinical Research Facility.

Dr Mike Weedon, lead researcher and Senior Lecturer at the University of Exeter Medical School, said: "This breakthrough delves into the 'dark matter' of the genome, which until recently, was very difficult to systematically study. Now, advances in DNA sequencing technology mean we have the tools to explore these non-protein coding regions far more thoroughly, and we are finding it has a significant impact on development and disease."

The pancreas plays an essential role in regulating levels of sugar (glucose) in the blood. It does this by the release of the hormone insulin, which is generated and released by cells known as pancreatic beta cells. It also produces enzymes to help digest and absorb food.

Pancreatic agenesis means babies have diabetes from birth and problems with digesting food which prevents weight gain. The disease is rare, but its study also helps scientists gain a better understanding of how the pancreas works, which helps shed light on research into diabetes.

Professor Andrew Hattersley, a Wellcome Trust Senior Investigator who led the Exeter team said: "This finding gives a deeper understanding to families affected by this disorder, and it also tells us more about how the pancreas develops. In the longer term, this insight could have implications for regenerative stem cell treatments for Type 1 Diabetes."

The team found six different mutations in a newly discovered PTF1A regulatory region in eleven people affected by pancreatic agenesis from across the world.

The collaboration also involved: the Institut d'Investigacions Biomèdiques August Pi I Sunyer, Spain; CIBER de Diabetes y Enfermedades Metabólicas, Spain; Universidad de Buenos Aires; Wellcome Trust–Medical Research Council Cambridge Stem Cell Institute; Seattle Children's Hospital Research Institute; King's College London; London Centre for Paediatric Endocrinology and Metabolism, in partnership with the Great Ormond Street Hospital for Children National Health Service Trust; University College London.

Louise Vennells | EurekAlert!
Further information:
http://www.exeter.ac.uk

More articles from Life Sciences:

nachricht Nanoparticle Exposure Can Awaken Dormant Viruses in the Lungs
16.01.2017 | Helmholtz Zentrum München - Deutsches Forschungszentrum für Gesundheit und Umwelt

nachricht Cholera bacteria infect more effectively with a simple twist of shape
13.01.2017 | Princeton University

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Designing Architecture with Solar Building Envelopes

Among the general public, solar thermal energy is currently associated with dark blue, rectangular collectors on building roofs. Technologies are needed for aesthetically high quality architecture which offer the architect more room for manoeuvre when it comes to low- and plus-energy buildings. With the “ArKol” project, researchers at Fraunhofer ISE together with partners are currently developing two façade collectors for solar thermal energy generation, which permit a high degree of design flexibility: a strip collector for opaque façade sections and a solar thermal blind for transparent sections. The current state of the two developments will be presented at the BAU 2017 trade fair.

As part of the “ArKol – development of architecturally highly integrated façade collectors with heat pipes” project, Fraunhofer ISE together with its partners...

Im Focus: How to inflate a hardened concrete shell with a weight of 80 t

At TU Wien, an alternative for resource intensive formwork for the construction of concrete domes was developed. It is now used in a test dome for the Austrian Federal Railways Infrastructure (ÖBB Infrastruktur).

Concrete shells are efficient structures, but not very resource efficient. The formwork for the construction of concrete domes alone requires a high amount of...

Im Focus: Bacterial Pac Man molecule snaps at sugar

Many pathogens use certain sugar compounds from their host to help conceal themselves against the immune system. Scientists at the University of Bonn have now, in cooperation with researchers at the University of York in the United Kingdom, analyzed the dynamics of a bacterial molecule that is involved in this process. They demonstrate that the protein grabs onto the sugar molecule with a Pac Man-like chewing motion and holds it until it can be used. Their results could help design therapeutics that could make the protein poorer at grabbing and holding and hence compromise the pathogen in the host. The study has now been published in “Biophysical Journal”.

The cells of the mouth, nose and intestinal mucosa produce large quantities of a chemical called sialic acid. Many bacteria possess a special transport system...

Im Focus: Newly proposed reference datasets improve weather satellite data quality

UMD, NOAA collaboration demonstrates suitability of in-orbit datasets for weather satellite calibration

"Traffic and weather, together on the hour!" blasts your local radio station, while your smartphone knows the weather halfway across the world. A network of...

Im Focus: Repairing defects in fiber-reinforced plastics more efficiently

Fiber-reinforced plastics (FRP) are frequently used in the aeronautic and automobile industry. However, the repair of workpieces made of these composite materials is often less profitable than exchanging the part. In order to increase the lifetime of FRP parts and to make them more eco-efficient, the Laser Zentrum Hannover e.V. (LZH) and the Apodius GmbH want to combine a new measuring device for fiber layer orientation with an innovative laser-based repair process.

Defects in FRP pieces may be production or operation-related. Whether or not repair is cost-effective depends on the geometry of the defective area, the tools...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

12V, 48V, high-voltage – trends in E/E automotive architecture

10.01.2017 | Event News

2nd Conference on Non-Textual Information on 10 and 11 May 2017 in Hannover

09.01.2017 | Event News

Nothing will happen without batteries making it happen!

05.01.2017 | Event News

 
Latest News

Multiregional brain on a chip

16.01.2017 | Power and Electrical Engineering

New technology enables 5-D imaging in live animals, humans

16.01.2017 | Information Technology

Researchers develop environmentally friendly soy air filter

16.01.2017 | Power and Electrical Engineering

VideoLinks
B2B-VideoLinks
More VideoLinks >>>