Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Researchers identify gene variant linked to glaucoma

22.09.2009
An international team, led by researchers from the University of California, San Diego School of Medicine and the National Eye Institute, has discovered gene variants for glaucoma in a black population. The finding could lead to future treatments or a cure for this disease, which leads to blindness in two million Americans each year.

The study by Kang Zhang, MD, PhD, Director of the Institute for Genomic Medicine and professor of ophthalmology and human genetics at the Shiley Eye Center at UC San Diego and J. Fielding Hejtmancik, MD, PhD, medical officer and chief of the Ophthalmic Molecular Genetics Section at the National Eye Institute, National Institutes of Health, along with the Barbados Family Study Group and colleagues in the United States, China and Barbados, will be published in the early online edition of the Proceedings of the National Academy of Science (PNAS) the week of September 21.

Glaucoma is the leading cause of blindness among blacks, affecting close to five percent of the population. The researchers chose to conduct the study in the Afro-Caribbean population of Barbados, where the incidence of glaucoma is double that figure – nearly 10 percent of all residents of the island – and where there is a strong genetic predisposition.

Known as "the silent thief of sight," glaucoma is a neurodegenerative disease that causes the death of ganglion cells of the retina, resulting in gradual and irreversible loss of peripheral vision. Reducing intra-ocular pressure can slow the progression to blindness, but there is no cure or reversal for glaucoma.

"The cause and progression of glaucoma are poorly understood, although we know there is a strong genetic predisposition to the disease," said co-author Robert N. Weinreb, MD, Director of the Hamilton Glaucoma Center and Distinguished Professor of Ophthalmology at UC San Diego.

"We have now identified very common gene variants that have a dramatic impact on an individual's risk for developing glaucoma," Zhang added. "These gene variants are present in 40 percent of individuals with glaucoma in the Barbados population and explains nearly one-third of their genetic risk for the disease. This study should give us a better handle on earlier diagnoses and new therapies."

Looking at 249 patients with glaucoma and 128 control subjects, the research built on early studies which scanned the entire human genome. The scientists then homed in on a particular segment of the human genome, and finally localized the gene on chromosome 2.

"Once we understand the specific gene or protein structure that is altered in the disease, we are one step closer to developing gene or stem cell-based therapies to treat glaucoma," said Zhang. Identifying the gene variants can also provide a more accurate and earlier diagnosis, allowing early intervention to slow glaucoma's progression.

Additional contributors to the study include researchers at the University of Utah; Yale University; Stony Brook University; University of the West Indies; Qingdao University, Qingdao, China; Sichuan Provincial People's Hospital, China; and West China Hospital, Sichuan University.

This work was supported by grants from the National Eye Institute of National Institutes of Health, Research to Prevent Blindness and the Burroughs Wellcome Fund.

Debra Kain | EurekAlert!
Further information:
http://www.ucsd.edu

More articles from Life Sciences:

nachricht Researchers identify potentially druggable mutant p53 proteins that promote cancer growth
09.12.2016 | Cold Spring Harbor Laboratory

nachricht Plant-based substance boosts eyelash growth
09.12.2016 | Fraunhofer-Institut für Angewandte Polymerforschung IAP

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Electron highway inside crystal

Physicists of the University of Würzburg have made an astonishing discovery in a specific type of topological insulators. The effect is due to the structure of the materials used. The researchers have now published their work in the journal Science.

Topological insulators are currently the hot topic in physics according to the newspaper Neue Zürcher Zeitung. Only a few weeks ago, their importance was...

Im Focus: Significantly more productivity in USP lasers

In recent years, lasers with ultrashort pulses (USP) down to the femtosecond range have become established on an industrial scale. They could advance some applications with the much-lauded “cold ablation” – if that meant they would then achieve more throughput. A new generation of process engineering that will address this issue in particular will be discussed at the “4th UKP Workshop – Ultrafast Laser Technology” in April 2017.

Even back in the 1990s, scientists were comparing materials processing with nanosecond, picosecond and femtosesecond pulses. The result was surprising:...

Im Focus: Shape matters when light meets atom

Mapping the interaction of a single atom with a single photon may inform design of quantum devices

Have you ever wondered how you see the world? Vision is about photons of light, which are packets of energy, interacting with the atoms or molecules in what...

Im Focus: Novel silicon etching technique crafts 3-D gradient refractive index micro-optics

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...

Im Focus: Quantum Particles Form Droplets

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...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

ICTM Conference 2017: Production technology for turbomachine manufacturing of the future

16.11.2016 | Event News

Innovation Day Laser Technology – Laser Additive Manufacturing

01.11.2016 | Event News

#IC2S2: When Social Science meets Computer Science - GESIS will host the IC2S2 conference 2017

14.10.2016 | Event News

 
Latest News

Researchers identify potentially druggable mutant p53 proteins that promote cancer growth

09.12.2016 | Life Sciences

Scientists produce a new roadmap for guiding development & conservation in the Amazon

09.12.2016 | Ecology, The Environment and Conservation

Satellites, airport visibility readings shed light on troops' exposure to air pollution

09.12.2016 | Health and Medicine

VideoLinks
B2B-VideoLinks
More VideoLinks >>>