Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

DNA sequencing helps identify genetic defects in glaucoma

17.11.2014

Scientists from the University of Liverpool have sequenced the mitochondrial genome in glaucoma patients to help further understanding into the genetic basis for the disease.

Glaucoma is a major cause of irreversible blindness, affecting more than 60 million people worldwide, increasing to an estimated 79.6 million people by 2020. It is thought that the condition has genetic origins and many experiments have shown that new sequencing approaches could help understand how the condition develops.

Studies on primary open-angle glaucoma - the most common form of glaucoma - have shown that mutations in mitochondria, the energy generating structures in all cells, could give valuable insight into how to prevent the disease.

Using new gene sequencing techniques, called massively parallel sequencing, the Liverpool team have produced data on the mitochondrial genome taken from glaucoma patients from around the world.

The impact that mitochondrial gene change has on disease progression has been difficult to fully determine as cells in the human body can contain mixtures of healthy and mutated mitochondrial genes. Using this new technology, however, the researchers aim to support the delivery of personalised medicines to identify drugs that will target mutated mitochondria.

Professor Colin Willoughby, from the University's Institute of Ageing and Chronic Disease, explains: "Understanding the genetic basis of glaucoma can direct care by helping to determine the patient's clinical risk of disease progression and visual loss.

"Increasing evidence suggests that mitochondrial dysfunction results in glaucoma and drugs that target mitochondria may emerge as future therapeutic interventions.

"Further studies on larger glaucoma numbers of patients are required to firmly establish the link between genetic defects in the mitochondrial genome and glaucoma development.

"Our research, however, has demonstrated that massively parallel sequencing is a cost-effective approach to detect a wide spectrum of mitochondrial mutations and will improve our ability to understand glaucoma, identify patients at risk of the disease or visual loss and support the development of new treatments."

The research is published in Genetics Medicine and supported by the British Council for the Prevention of Blindness.

Samantha Martin | EurekAlert!
Further information:
http://www.liv.ac.uk/

More articles from Life Sciences:

nachricht How brains surrender to sleep
23.06.2017 | IMP - Forschungsinstitut für Molekulare Pathologie GmbH

nachricht A new technique isolates neuronal activity during memory consolidation
22.06.2017 | Spanish National Research Council (CSIC)

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Can we see monkeys from space? Emerging technologies to map biodiversity

An international team of scientists has proposed a new multi-disciplinary approach in which an array of new technologies will allow us to map biodiversity and the risks that wildlife is facing at the scale of whole landscapes. The findings are published in Nature Ecology and Evolution. This international research is led by the Kunming Institute of Zoology from China, University of East Anglia, University of Leicester and the Leibniz Institute for Zoo and Wildlife Research.

Using a combination of satellite and ground data, the team proposes that it is now possible to map biodiversity with an accuracy that has not been previously...

Im Focus: Climate satellite: Tracking methane with robust laser technology

Heatwaves in the Arctic, longer periods of vegetation in Europe, severe floods in West Africa – starting in 2021, scientists want to explore the emissions of the greenhouse gas methane with the German-French satellite MERLIN. This is made possible by a new robust laser system of the Fraunhofer Institute for Laser Technology ILT in Aachen, which achieves unprecedented measurement accuracy.

Methane is primarily the result of the decomposition of organic matter. The gas has a 25 times greater warming potential than carbon dioxide, but is not as...

Im Focus: How protons move through a fuel cell

Hydrogen is regarded as the energy source of the future: It is produced with solar power and can be used to generate heat and electricity in fuel cells. Empa researchers have now succeeded in decoding the movement of hydrogen ions in crystals – a key step towards more efficient energy conversion in the hydrogen industry of tomorrow.

As charge carriers, electrons and ions play the leading role in electrochemical energy storage devices and converters such as batteries and fuel cells. Proton...

Im Focus: A unique data centre for cosmological simulations

Scientists from the Excellence Cluster Universe at the Ludwig-Maximilians-Universität Munich have establised "Cosmowebportal", a unique data centre for cosmological simulations located at the Leibniz Supercomputing Centre (LRZ) of the Bavarian Academy of Sciences. The complete results of a series of large hydrodynamical cosmological simulations are available, with data volumes typically exceeding several hundred terabytes. Scientists worldwide can interactively explore these complex simulations via a web interface and directly access the results.

With current telescopes, scientists can observe our Universe’s galaxies and galaxy clusters and their distribution along an invisible cosmic web. From the...

Im Focus: Scientists develop molecular thermometer for contactless measurement using infrared light

Temperature measurements possible even on the smallest scale / Molecular ruby for use in material sciences, biology, and medicine

Chemists at Johannes Gutenberg University Mainz (JGU) in cooperation with researchers of the German Federal Institute for Materials Research and Testing (BAM)...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Plants are networkers

19.06.2017 | Event News

Digital Survival Training for Executives

13.06.2017 | Event News

Global Learning Council Summit 2017

13.06.2017 | Event News

 
Latest News

Quantum thermometer or optical refrigerator?

23.06.2017 | Physics and Astronomy

A 100-year-old physics problem has been solved at EPFL

23.06.2017 | Physics and Astronomy

Equipping form with function

23.06.2017 | Information Technology

VideoLinks
B2B-VideoLinks
More VideoLinks >>>