Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Genetic Link to Dry Macular Degeneration Found

28.08.2008
A University of Kentucky ophthalmologist, along with a team of scientists, has discovered a genetic mutation that offers protection against a type of age-related macular degeneration (AMD), a disease of the eye that is the leading cause of blindness in adults over age 50.

The study, published Wednesday in The New England Journal of Medicine, identifies a functional link between mutation of an immune-system receptor called toll-like receptor 3 (TLR3) and the "dry" type of AMD known as geographic atrophy. The untreatable, progressive disease affects an estimated 8 million Americans, causing permanent vision loss.

The discovery of the first gene associated specifically with dry AMD opens the door to developing treatments, said Dr. Jayakrishna Ambati, a retinal surgeon-scientist in UK's Department of Ophthalmology and Visual Sciences, who along with Dr. Kang Zhang, a retinal specialist and human genetics pioneer at the University of California San Diego, and Nicholas Katsanis, a molecular geneticist at The Johns Hopkins University School of Medicine, led the multi-institutional collaborative study.

Ambati's lab first discovered a relationship between a dysfunctional TLR3 mutation and decreased ocular cell toxicity in a study published in Nature earlier this year. The current study reports that TLR3 activation leads to death of specific cells in the retina and that people with the normal TLR3 gene are two to five times more likely to develop geographic atrophy than those who carry an inactive TLR3 gene mutation.

Ambati’s group plans to start clinical trials next year in patients at risk for developing geographic atrophy using new TLR3 inhibitors developed in his lab.

“We finally have a potential therapy for preventing vision loss from dry AMD," Ambati said. "I am very excited by this discovery."

The study may have major preventive and therapeutic implications, according to Hemin Chin, director of the ocular genetics program at the National Eye Institute.

"Given its high prevalence in the United States and the world, finding effective prevention and treatment strategies for AMD is of critical importance," Chin said. "This finding represents a major advancement in our understanding of dry AMD, for which effective treatment is not yet available."

Of more immediate significance, an investigational drug modality known as short interfering RNA (siRNA) – currently in advanced phase trials for the "wet" type of AMD – also activates TLR3, as shown by Ambati’s earlier Nature study and recently confirmed by another laboratory in the journal Nature Structural & Molecular Biology. The New England Journal of Medicine study raises the possibility that siRNA-based therapies could cause geographic atrophy.

“Collectively, these studies highlight the importance of critically assessing the potential risk posed to patients by siRNA-based therapies,” Ambati said.

Dr. Mark Kleinman and Dr. Wongil Cho, postdoctoral scholars in Ambati's lab, performed the functional studies linking TLR3 and dry AMD in human cells and animal models. Ambati’s laboratory is supported by the NIH National Eye Institute, Burroughs Wellcome Fund, Research to Prevent Blindness, American Health Assistance Foundation, Macula Vision Research Foundation, and Dr. E. Vernon & Eloise C. Smith Endowed Chair. The Foundation Fighting Blindness, Macula Vision Research Foundation, Veterans Affairs Administration; and Ruth and Milton Steinbach Fund also funded this study.

Scientists from University of Utah School of Medicine, Johns Hopkins University, Sichuan Academy of Medical Sciences and Sichuan Provincial People’s Hospital in Chengdu, China, Oregon Health & Science University, University of California San Diego, Greater Baltimore Medical Center, Keck School of Medicine of the University of Southern California and Rockefeller University were part of this joint effort as well.

We "see blue" at the University of Kentucky. We're home not only to powerhouse basketball and the best of intercollegiate athletics; we're also nationally ranked in more than 70 academic programs. We're charting an aggressive, exciting path toward becoming a Top 20 public research institution. “see blue.” is a lot of things, but most of all it's about helping students realize their potential and harness the power of their dreams.

For more about UK’s efforts to become a Top 20 university and how we "see blue," visit www.uky.edu/OPBPA/business_plan.htm

Ann Blackford | Newswise Science News
Further information:
http://www.uky.edu

More articles from Life Sciences:

nachricht The Secret of the Rock Drawings
24.05.2019 | Max-Planck-Institut für Chemie

nachricht Chemical juggling with three particles
24.05.2019 | Rheinische Friedrich-Wilhelms-Universität Bonn

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: New studies increase confidence in NASA's measure of Earth's temperature

A new assessment of NASA's record of global temperatures revealed that the agency's estimate of Earth's long-term temperature rise in recent decades is accurate to within less than a tenth of a degree Fahrenheit, providing confidence that past and future research is correctly capturing rising surface temperatures.

The most complete assessment ever of statistical uncertainty within the GISS Surface Temperature Analysis (GISTEMP) data product shows that the annual values...

Im Focus: The geometry of an electron determined for the first time

Physicists at the University of Basel are able to show for the first time how a single electron looks in an artificial atom. A newly developed method enables them to show the probability of an electron being present in a space. This allows improved control of electron spins, which could serve as the smallest information unit in a future quantum computer. The experiments were published in Physical Review Letters and the related theory in Physical Review B.

The spin of an electron is a promising candidate for use as the smallest information unit (qubit) of a quantum computer. Controlling and switching this spin or...

Im Focus: Self-repairing batteries

UTokyo engineers develop a way to create high-capacity long-life batteries

Engineers at the University of Tokyo continually pioneer new ways to improve battery technology. Professor Atsuo Yamada and his team recently developed a...

Im Focus: Quantum Cloud Computing with Self-Check

With a quantum coprocessor in the cloud, physicists from Innsbruck, Austria, open the door to the simulation of previously unsolvable problems in chemistry, materials research or high-energy physics. The research groups led by Rainer Blatt and Peter Zoller report in the journal Nature how they simulated particle physics phenomena on 20 quantum bits and how the quantum simulator self-verified the result for the first time.

Many scientists are currently working on investigating how quantum advantage can be exploited on hardware already available today. Three years ago, physicists...

Im Focus: Accelerating quantum technologies with materials processing at the atomic scale

'Quantum technologies' utilise the unique phenomena of quantum superposition and entanglement to encode and process information, with potentially profound benefits to a wide range of information technologies from communications to sensing and computing.

However a major challenge in developing these technologies is that the quantum phenomena are very fragile, and only a handful of physical systems have been...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

SEMANTiCS 2019 brings together industry leaders and data scientists in Karlsruhe

29.04.2019 | Event News

Revered mathematicians and computer scientists converge with 200 young researchers in Heidelberg!

17.04.2019 | Event News

First dust conference in the Central Asian part of the earth’s dust belt

15.04.2019 | Event News

 
Latest News

On Mars, sands shift to a different drum

24.05.2019 | Physics and Astronomy

Piedmont Atlanta first in Georgia to offer new minimally invasive treatment for emphysema

24.05.2019 | Medical Engineering

Chemical juggling with three particles

24.05.2019 | Life Sciences

VideoLinks
Science & Research
Overview of more VideoLinks >>>