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 Water forms 'spine of hydration' around DNA, group finds
26.05.2017 | Cornell University

nachricht How herpesviruses win the footrace against the immune system
26.05.2017 | Helmholtz-Zentrum für Infektionsforschung

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 the immune system be boosted against Staphylococcus aureus by delivery of messenger RNA?

Staphylococcus aureus is a feared pathogen (MRSA, multi-resistant S. aureus) due to frequent resistances against many antibiotics, especially in hospital infections. Researchers at the Paul-Ehrlich-Institut have identified immunological processes that prevent a successful immune response directed against the pathogenic agent. The delivery of bacterial proteins with RNA adjuvant or messenger RNA (mRNA) into immune cells allows the re-direction of the immune response towards an active defense against S. aureus. This could be of significant importance for the development of an effective vaccine. PLOS Pathogens has published these research results online on 25 May 2017.

Staphylococcus aureus (S. aureus) is a bacterium that colonizes by far more than half of the skin and the mucosa of adults, usually without causing infections....

Im Focus: A quantum walk of photons

Physicists from the University of Würzburg are capable of generating identical looking single light particles at the push of a button. Two new studies now demonstrate the potential this method holds.

The quantum computer has fuelled the imagination of scientists for decades: It is based on fundamentally different phenomena than a conventional computer....

Im Focus: Turmoil in sluggish electrons’ existence

An international team of physicists has monitored the scattering behaviour of electrons in a non-conducting material in real-time. Their insights could be beneficial for radiotherapy.

We can refer to electrons in non-conducting materials as ‘sluggish’. Typically, they remain fixed in a location, deep inside an atomic composite. It is hence...

Im Focus: Wafer-thin Magnetic Materials Developed for Future Quantum Technologies

Two-dimensional magnetic structures are regarded as a promising material for new types of data storage, since the magnetic properties of individual molecular building blocks can be investigated and modified. For the first time, researchers have now produced a wafer-thin ferrimagnet, in which molecules with different magnetic centers arrange themselves on a gold surface to form a checkerboard pattern. Scientists at the Swiss Nanoscience Institute at the University of Basel and the Paul Scherrer Institute published their findings in the journal Nature Communications.

Ferrimagnets are composed of two centers which are magnetized at different strengths and point in opposing directions. Two-dimensional, quasi-flat ferrimagnets...

Im Focus: World's thinnest hologram paves path to new 3-D world

Nano-hologram paves way for integration of 3-D holography into everyday electronics

An Australian-Chinese research team has created the world's thinnest hologram, paving the way towards the integration of 3D holography into everyday...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Marine Conservation: IASS Contributes to UN Ocean Conference in New York on 5-9 June

24.05.2017 | Event News

AWK Aachen Machine Tool Colloquium 2017: Internet of Production for Agile Enterprises

23.05.2017 | Event News

Dortmund MST Conference presents Individualized Healthcare Solutions with micro and nanotechnology

22.05.2017 | Event News

 
Latest News

How herpesviruses win the footrace against the immune system

26.05.2017 | Life Sciences

Water forms 'spine of hydration' around DNA, group finds

26.05.2017 | Life Sciences

First Juno science results supported by University of Leicester's Jupiter 'forecast'

26.05.2017 | Physics and Astronomy

VideoLinks
B2B-VideoLinks
More VideoLinks >>>