Biotechnologist Dr Doug Lester and PhD student Hemanth Tummala were searching for the genetic mutation that causes blindness in certain chickens, but their findings point the way to potentially important new areas of research in human health.
An inherited condition known as retinopathy globe enlarged (RGE) causes affected chickens to go blind within six to eight weeks of hatching.
Working with colleagues from Leeds University and Edinburgh’s Roslin Institute, Dr Lester’s team traced RGE’s cause to a mutation in the GNB3 gene.
The mutation deletes an essential amino acid, preventing GNB3 from playing its proper part in normal eye development.
Because the GNB3 gene is also vital for the normal functioning of important body organs, Dr Lester believes that the mutation might be a key factor in a wide range of disorders in humans.
“It’s probable that a very similar mutation is also responsible for an inherited eye disorder in humans, known as cone-rod dystrophy,” Dr Lester said.
Human cone-rod dystrophy sufferers are sighted at birth, but lose first their central colour vision in early adulthood, before slowly losing their peripheral black and white vision as well.
“Interestingly the human GNB3 gene has not been previously implicated in retinal dystrophy, however a much milder human mutation has been shown to reduce the level of the GNB3 protein by 50% in many tissues of the body and this has been associated with low birth weight, obesity, hypertension, coronary heart disease, type II diabetes and depression,” Dr Lester said.
“Our findings might therefore provide a useful indicator for further research into the pathogenesis of these diseases as well,” he added.
Further studies are now underway to see if the chickens also suffer from hypertension and if humans with inherited retinal degeneration also have mutations in this gene.
The longer-term objective of the research is to develop gene therapy processes to prevent this deterioration in affected individuals or perhaps even to restore the sight of blind people suffering from the condition.
More genes are active in high-performance maize
19.01.2018 | Rheinische Friedrich-Wilhelms-Universität Bonn
How plants see light
19.01.2018 | Albert-Ludwigs-Universität Freiburg im Breisgau
On the way to an intelligent laboratory, physicists from Innsbruck and Vienna present an artificial agent that autonomously designs quantum experiments. In initial experiments, the system has independently (re)discovered experimental techniques that are nowadays standard in modern quantum optical laboratories. This shows how machines could play a more creative role in research in the future.
We carry smartphones in our pockets, the streets are dotted with semi-autonomous cars, but in the research laboratory experiments are still being designed by...
What enables electrons to be transferred swiftly, for example during photosynthesis? An interdisciplinary team of researchers has worked out the details of how...
For the first time, scientists have precisely measured the effective electrical charge of a single molecule in solution. This fundamental insight of an SNSF Professor could also pave the way for future medical diagnostics.
Electrical charge is one of the key properties that allows molecules to interact. Life itself depends on this phenomenon: many biological processes involve...
At the JEC World Composite Show in Paris in March 2018, the Fraunhofer Institute for Laser Technology ILT will be focusing on the latest trends and innovations in laser machining of composites. Among other things, researchers at the booth shared with the Aachen Center for Integrative Lightweight Production (AZL) will demonstrate how lasers can be used for joining, structuring, cutting and drilling composite materials.
No other industry has attracted as much public attention to composite materials as the automotive industry, which along with the aerospace industry is a driver...
Scientists at Tokyo Institute of Technology (Tokyo Tech) and Tohoku University have developed high-quality GFO epitaxial films and systematically investigated their ferroelectric and ferromagnetic properties. They also demonstrated the room-temperature magnetocapacitance effects of these GFO thin films.
Multiferroic materials show magnetically driven ferroelectricity. They are attracting increasing attention because of their fascinating properties such as...
08.01.2018 | Event News
11.12.2017 | Event News
08.12.2017 | Event News
19.01.2018 | Materials Sciences
19.01.2018 | Health and Medicine
19.01.2018 | Physics and Astronomy