HOME >> BIOLOGY >> NEWS
From gene discovery to preventing eye disease in retinitis pigmentosa

(Philadelphia, PA) -- Retinitis pigmentosa (RP) is an inherited eye disease that causes visual disability leading to blindness. Over the last 15 years, researchers have pinpointed defects in dozens of genes causing different forms of RP. Surprisingly, patients with the same genetic defect can show different severities of vision loss and rates of disease progression. This effect is most dramatic across the retina of some individuals where regions with normal vision can abut regions of no vision. Environmental factors have been near the top of the suspect list for this variation in severity. An environmental factor experienced by all, but to varying extents, is exposure to light bright lights have been previously speculated to accelerate certain forms of RP.

Now, investigators from the University of Pennsylvania and Cornell University provide evidence for retinal injury caused by moderate light exposure in dogs with a mutation in the rhodopsin gene. Since the blindness in these dogs mimics that observed in human RP caused by mutations in the rhodopsin gene, the investigators strongly recommend limiting excess light exposure in these patients.

"Rhodopsin is the light-catching molecule within rod photoreceptor cells that afford us with night vision," says Artur V. Cideciyan, PhD, Research Associate Professor of Ophthalmology at Penn's Scheie Eye Institute, and lead author of the current study published online this week in the Proceedings of the National Academy of Sciences.

"About 100 mutations in the rhodopsin gene have been shown to cause RP but our understanding of the steps between mutant proteins and death of rod photoreceptors remains incomplete," says Cideciyan. "What we know is that there are at least two ways in which rhodopsin mutations lead to blindness. Some mutations destroy vision in early life and children are left with only impaired day vision, which then disappears. In other mutations, night vision can be present throughout life
'"/>

Contact: Olivia Fermano
olivia.fermano@uphs.upenn.edu
215-349-5653
University of Pennsylvania School of Medicine
22-Mar-2005


Page: 1 2 3

Related biology news :

1. Enzyme discovery sheds light on vitamin D
2. New proteomics research promises to revolutionize biomedical discovery
3. MU researchers make discovery in molecular mechanics of phototropism
4. International team to honor 30th anniversary of deep-sea vent discovery in Galpagos
5. Screening approach leads to discovery of gene linked to breast cancer
6. Lucky 13 as new gene discovery offers further hope for childhood blindness
7. Plants that produce more vitamin C may result from UCLA-Dartmouth discovery
8. Biting discovery: MU entomologist finds host of new aquatic insect species in Thailand
9. J&JPRD discovery may lead to new treatments for chronic sensitivity, pain caused by cold
10. Protein enables discovery of quantum effect in photosynthesis
11. Unicellular microRNA discovery

Post Your Comments:
*Name:
*Comment:
*Email:


(Date:3/27/2017)... CENTRE, N.Y. , March 27, 2017 /PRNewswire-USNewswire/ ... Healthcare Information and Management Systems Society (HIMSS) Analytics ... Outpatient EMR Adoption Model sm . In addition, ... 12% of U.S. hospitals using an electronic medical ... CHS for its high level of EMR usage ...
(Date:3/24/2017)... 2017 Research and Markets has announced the ... & Trends - Industry Forecast to 2025" report to their ... The Global ... CAGR of around 15.1% over the next decade to reach approximately ... the market estimates and forecasts for all the given segments on ...
(Date:3/23/2017)... Research and Markets has announced the addition of the ... to 2025" report to their offering. ... The Global Vehicle Anti-Theft System Market ... the next decade to reach approximately $14.21 billion by 2025. ... for all the given segments on global as well as regional ...
Breaking Biology News(10 mins):
(Date:7/20/2017)... ... 2017 , ... Crucial Data Solutions (CDS) is excited to ... unified. TrialKit, a native mobile app, empowers investigators and clinicians to build, deploy, ... mobile devices. With TrialKit, clinical researchers can utilize Core Motion technologies and Apple’s ...
(Date:7/18/2017)... ... ... G-CON today announced that it has received Notices of ... 14/858,857 and 13/669,785 both entitled Modular, Self-Contained, Mobile Clean Room. The U.S. Patent ... G-CON’s R&D investments and validate the G-CON platform as a novel way to ...
(Date:7/17/2017)... ... July 17, 2017 , ... Whitehouse Laboratories is excited to ... the full series of ISO 80369 standard test procedures. The ISO 80369 series ... drug delivery systems. With this recent expansion, Whitehouse Labs becomes one of the ...
(Date:7/17/2017)... , ... July 17, 2017 , ... ... characterized by a wide range of overlapping clinical features. The advancement of targeted ... the field of NDD research and testing. , However, designing a custom ...
Breaking Biology Technology:
Cached News: