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
University of Pennsylvania School of Medicine

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:9/28/2015)... , Sept. 28, 2015 Synaptics Inc. ... interface solutions, today announced that Lenovo has selected Synaptics ... sensor, FS4202, for its latest smartphone, the Vibe P1. ... access to unlock the device and provide swift access ... The feature-rich Natural ID FS4202 sensor solution utilizes ...
(Date:9/24/2015)... September 24, 2015 ... 2015 Kerv ( http://kerv.com ... lanserar idag världens första kontaktlösa betalningsring på ... 77 000 GBP för massproduktion via crowdfunding.  ... ) , Kerv-bärare kan göra ...
(Date:9/10/2015)... 2015 Report Details The global ... upon previous expectations of revenues, consumer adoption and even ... in which wearables begin to achieve that mass market ... main reasons is the entrance of Apple to the ... market, but the overall size of the wearable technology ...
Breaking Biology News(10 mins):
(Date:10/8/2015)... Oct. 8, 2015 The 2015 Nobel Prize in ... of Texas at Dallas. Aziz Sancar , who earned ... Dallas in 1977, is one of three scientists who ... monitor and repair damaged DNA on a molecular level.  --> ... cell biology from UT Dallas in 1977, ...
(Date:10/8/2015)... , Oct. 8, 2015  The ALS Association, ... ALS Assistive Technology Challenge to revolutionize communication technology solutions ... --> ALS (amyotrophic lateral sclerosis) is ... in the brain and the spinal cord. Eventually, people ... muscle movement, which often leads to total paralysis and ...
(Date:10/8/2015)... Oct. 8, 2015  Today the Wyss Institute for ... of its start-up company Opsonix Inc. The ... Harvard,s Office of Technology Development (OTD) and Opsonix ... therapy for clinical use. --> ... a million people every year in the U.S. — ...
(Date:10/8/2015)... Rapids, MN (PRWEB) , ... October 08, 2015 , ... ... Semiconductor, Medical Device, Aerospace and other technology-driven industries, announces that it is one of ... in Class – Midsize Company.” On Thursday, September 25 Talon Innovations was recognized ...
Breaking Biology Technology:
Cached News: