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:
(Date:7/24/2014)... vision specialist at The University of Texas Health Science ... a grant to help Harris County residents whose vision ... , Even with corrective lenses, many people with low ... a variety of low vision devices, such as telescopes, ... loss. , Iyer is using the three-year, $164,645 SightFirst ...
(Date:7/24/2014)... gathered at NJIT this week for an all-day public ... Environmental Protection Agency (EPA) to dredge toxic sediment from ... The EPA has called the plan, which proposes removing ... sections of the riverbed, one of the largest cleanups ... dredged and disposed off-site. , "We need to ensure ...
(Date:7/24/2014)... in the United States, wildland managers often utilize the ... trees (ladder fuels). These cuttings and other post-logging ... danger in order to dispose of the material. To ... often cover all or part of the debris pile ... plastic, in order to keep water out. A recent ...
Breaking Biology News(10 mins):UTHealth Dr. Bhavani Iyer awarded low vision grant 2Experts Weigh the Pros and Cons of a $1.7 Billion EPA Cleanup Plan for the Passaic River at an NJIT 2Study gives new perspective on agricultural plastic, debris burning, and air quality 2
(Date:7/24/2014)... to settle into equilibriuma state of unchanging balance ... of non-equilibrium conditions where new possibilities lie. Non-equilibrium ... such as temperature fluctuations, freezing and melting, or ... body temperature, airplanes to fly, and the Earth ... even though these conditions exist naturally and are ...
(Date:7/24/2014)... 24, 2014 Research and Markets ... and Proteomics Analytical Instruments Market 2014-2018" report to ... Genomics is the study of the gene ... the structure and functions of proteomes or sets of ... technology. Genomics involves the mapping of genes and DNA ...
(Date:7/24/2014)... , July 24, 2014 SRI International ... with the National Institute of Allergy and Infectious Diseases ... conduct preclinical development of potential therapies for HIV infection ... to treat HIV and AIDS and the complications and ... microbicides for preventing sexual transmission of HIV. ...
(Date:7/24/2014)... Francisco, CA (PRWEB) July 24, 2014 ... to be semi-finalists in Livestrong’s Big C Competition. Out ... Health are each headed to the semi-final round. In ... Livestrong’s exclusive three-month accelerator program, complete with mentoring from ... , As part of the angelMD commitment to ...
Breaking Biology Technology:New approach to form non-equilibrium structures 2Global Genomics and Proteomics Analytical Instruments Market 2014-2018: Key Vendors are Agilent, Bio-Rad , F. Hoffmann, La Roche, Illumina, PerkinElmer and Thermo Fisher Scientific 2National Institute of Allergy and Infectious Diseases Awards SRI International Contract to Study New Therapies for HIV and AIDS 2National Institute of Allergy and Infectious Diseases Awards SRI International Contract to Study New Therapies for HIV and AIDS 33 angelMD Startups Make Livestrong Big C Semi-finals 2
Cached News: