Researchers at the John A. Moran Eye Center at the University of Utah have identified a gene called HTRA1 that contributes to a major risk of Age Related Macular Degeneration (AMD), the most common cause of irreversible vision loss in the developed world. The discovery of this gene allows anyone to take a simple blood test to find out if they are up to 700% more likely to develop AMD than the average person. This is particularly important for individuals who have a family history of blinding eye conditions.
This test, which is strongly predictive of AMD, will allow people with high risk for AMD to adapt diet and lifestyle changes to lower their risk or delay the onset of the disease. Perhaps more significantly, because this research has identified an entire new pathway and drug target for AMD, this discovery will very likely lead to new and effective treatments for the disease.
Lead by Kang Zhang M.D., Ph.D., Director of the Division of Ophthalmic Genetics at the Moran Eye Center and Associate Professor of Ophthalmology and Visual Sciences at the University of Utah, the study will be published online October 19 in the journal Science. Dr. Zhang explains the significance of the discovery: "Several previous studies have implicated a major gene at chromosome 10q26 that affects the risk of AMD, but until this study the precise gene has not been identified."
AMD is a degenerative disorder affecting a portion of the retina called the macula. The macula is responsible for clear, central vision. Individuals with AMD have difficulty with activities like reading, watching television, and seeing faces of people directly across the table. The disease often leads to legal blindness in patients older than 60 years of age.
How did the researchers discover that this gene is involved in AMD? In this study the researchers genotyped 581 people with AMD and 309 without AMD in a Utah population. Their studies demonstrate that if a person has a mutant copy of the HTRA1 gene, they have a significantly increased risk of developing age related macular degeneration during their lifetime.
"If anyone in your family has a history of macular degeneration, this test would be advised," says Dr. Zhang. "The addition of this new piece to the AMD puzzle suggests that this gene plays a critical role in the formation of tiny protein and fat-containing debris called soft confluent drusen, a precursor of AMD, and promotes abnormal growth of blood vessels typical of the wet form of AMD. The gene is also a critical genetic clue that will allow us to move forward with developing treatments and preventive strategies for patients with AMD. With our massive population swing toward the at-risk age (60+) for AMD, finding treatments and cures is vital."
Steve Brown | EurekAlert!
Multi-institutional collaboration uncovers how molecular machines assemble
02.12.2016 | Salk Institute
Fertilized egg cells trigger and monitor loss of sperm’s epigenetic memory
02.12.2016 | IMBA - Institut für Molekulare Biotechnologie der Österreichischen Akademie der Wissenschaften GmbH
A multi-institutional research collaboration has created a novel approach for fabricating three-dimensional micro-optics through the shape-defined formation of porous silicon (PSi), with broad impacts in integrated optoelectronics, imaging, and photovoltaics.
Working with colleagues at Stanford and The Dow Chemical Company, researchers at the University of Illinois at Urbana-Champaign fabricated 3-D birefringent...
In experiments with magnetic atoms conducted at extremely low temperatures, scientists have demonstrated a unique phase of matter: The atoms form a new type of quantum liquid or quantum droplet state. These so called quantum droplets may preserve their form in absence of external confinement because of quantum effects. The joint team of experimental physicists from Innsbruck and theoretical physicists from Hannover report on their findings in the journal Physical Review X.
“Our Quantum droplets are in the gas phase but they still drop like a rock,” explains experimental physicist Francesca Ferlaino when talking about the...
The Max Planck Institute for Physics (MPP) is opening up a new research field. A workshop from November 21 - 22, 2016 will mark the start of activities for an innovative axion experiment. Axions are still only purely hypothetical particles. Their detection could solve two fundamental problems in particle physics: What dark matter consists of and why it has not yet been possible to directly observe a CP violation for the strong interaction.
The “MADMAX” project is the MPP’s commitment to axion research. Axions are so far only a theoretical prediction and are difficult to detect: on the one hand,...
Broadband rotational spectroscopy unravels structural reshaping of isolated molecules in the gas phase to accommodate water
In two recent publications in the Journal of Chemical Physics and in the Journal of Physical Chemistry Letters, researchers around Melanie Schnell from the Max...
The efficiency of power electronic systems is not solely dependent on electrical efficiency but also on weight, for example, in mobile systems. When the weight of relevant components and devices in airplanes, for instance, is reduced, fuel savings can be achieved and correspondingly greenhouse gas emissions decreased. New materials and components based on gallium nitride (GaN) can help to reduce weight and increase the efficiency. With these new materials, power electronic switches can be operated at higher switching frequency, resulting in higher power density and lower material costs.
Researchers at the Fraunhofer Institute for Solar Energy Systems ISE together with partners have investigated how these materials can be used to make power...
16.11.2016 | Event News
01.11.2016 | Event News
14.10.2016 | Event News
02.12.2016 | Medical Engineering
02.12.2016 | Agricultural and Forestry Science
02.12.2016 | Physics and Astronomy