Navigation Links
UCLA researchers identify key enzyme linked to childhood blindness

In findings that could lead to curing some forms of congenital blindness through gene therapy, researchers at UCLA have discovered that RPE65, a gene missing in infants born with the blinding disease Leber congenital amaurosis, is also a key enzyme in the visual cycle. The identity of this enzyme has long been a mystery to scientists.

The study, "Rpe65 is the Retinoid Isomerase in Bovine Retinal Pigment Epithelium," is published in the Aug. 12 issue of Cell magazine.

"We were amazed when we discovered the function for Rpe65 -- and that Rpe65 is the retinoid isomerase. It is a protein that all of us had known about for years," said Dr. Gabriel Travis, professor of ophthalmology and biological chemistry at UCLA's Jules Stein Eye Institute and one of the researchers. "It's like searching the world for a treasure, then discovering it in your own back yard."

Leber congenital amaurosis is an inherited disease that is believed to cause up to 20 percent of all cases of childhood blindness. It is caused by mutations in several different genes including RPE65. An important characteristic of this disease is that the light sensitive rod and cone cells remain intact in the retinas of Leber patients for a long time.

"This suggests that replacement of RPE65 by gene therapy should correct the blindness in these children, as was observed in mice and dogs with RPE65 mutations," Travis said. "This is a major breakthrough in understanding the visual cycle. It has ramifications for several inherited blinding diseases caused by mutations in visual cycle genes."

The newly identified isomerase enzyme plays a crucial role in the regeneration of rhodopsin visual pigment in the retina after light exposure. Rhodopsin contains a light absorbing molecule called 11 cis retinaldehyde, related to vitamin A, which is converted upon light absorption to all trans retinaldehyde in a process called photo bleaching. This conversion is the first step in visual percep
'"/>

Source:University of California - Los Angeles


Page: 1 2

Related biology news :

1. NYU researchers simulate molecular biological clock
2. Vital step in cellular migration described by UCSD medical researchers
3. ASU researchers finds novel chemistry at work to provide parrots vibrant red colors
4. UCSD researchers maintain stem cells without contaminated animal feeder layers
5. Why do insects stop breathing? To avoid damage from too much oxygen, say researchers
6. New protein discovered by Hebrew University researchers
7. First real-time view of developing neurons reveals surprises, say Stanford researchers
8. Agilent Technologies releases automated literature search tool for biology researchers
9. Self-assembled nano-sized probes allow Penn researchers to see tumors through flesh and skin
10. Yale researchers identify molecule for detecting parasitic infection in humans
11. US life expectancy about to decline, researchers say
Post Your Comments:
(Date:11/18/2014)... 2014  The Secure Identity & Biometrics Association ... announce the formation of The Airport Entry and ... Identity and Biometric Entry and Exit Solutions Framework ... support from BORDERPOL, the international non-profit organization that ... expertise regarding border security, traveler and migration systems. ...
(Date:11/12/2014)... GARDENS, Fla. , Nov. 12, 2014 ... announced today that its U.are.U ® fingerprint readers ... bakery chain in Central Mexico . ... June 2014 to eliminate payroll issues caused by employees ... to installing the U.are.U fingerprint readers, Montparnasse relied on ...
(Date:11/7/2014)... , November 6, 2014 Leading Biometric ... better mobile security revolutionizing online transactions.  Companies in focus today ... Ltd. (NYSE: BABA ), Google Inc. (NASDAQ: ... eBay Inc. (NASDAQ: EBAY ) and MasterCard Inc. ... and NXTDW), a biometric authentication company focused on the ...
Breaking Biology News(10 mins):Identity Management, Document Authentication and Biometric Companies Form "The Airport Entry and Exit Working Group", Releasing the Framework to Help Guide the Department of Homeland Security and Congress Towards Solutions 2Identity Management, Document Authentication and Biometric Companies Form "The Airport Entry and Exit Working Group", Releasing the Framework to Help Guide the Department of Homeland Security and Congress Towards Solutions 3Montparnasse Pasteleria Achieves Time and Attendance Transparency with Crossmatch U.are.U Fingerprint Readers 2Universal Authentication Methods Provide More Secure Operations for Biometrics Devices - Company Joins FIDO Alliance for Consumer Protection 2Universal Authentication Methods Provide More Secure Operations for Biometrics Devices - Company Joins FIDO Alliance for Consumer Protection 3Universal Authentication Methods Provide More Secure Operations for Biometrics Devices - Company Joins FIDO Alliance for Consumer Protection 4Universal Authentication Methods Provide More Secure Operations for Biometrics Devices - Company Joins FIDO Alliance for Consumer Protection 5Universal Authentication Methods Provide More Secure Operations for Biometrics Devices - Company Joins FIDO Alliance for Consumer Protection 6
... 21st Norsk Perinataldager (Norwegian Perinatal Days) will be arranged ... Conference from the 5th 7th November. This is ... the World Health Organisation (WHO). The Norwegian Institute of ... researchers from the NIPH will present research on stillbirth ...
... Blue mold, caused by the fungus Penicillium expansum, ... the world, causing extensive losses to stored apples. As the ... whole bunchgood fruit stored in containers with decaying fruit often ... of the New York market from 1972 to 1984, blue ...
... 10-meter-long predatory dinosaur discovered along the banks of Argentina,s ... their unusual breathing system. Paleontologists led by the ... will publish their discovery Sept. 29 in the online ... Sereno to announce the discovery at a news conference ...
Cached Biology News:Kazak apple research key to preventing blue mold 2New meat-eating dinosaur from Argentina had bird-like breathing system 2
(Date:11/21/2014)... 2014 Why did Stephen Hawking become ... so instantly recognizable? Why have they become icons to ... author Hilton Ratcliffe seeks out the answers to those ... to do with science. In " Stephen Hawking Smoked ... 21, 2014), Ratcliffe puts it plainly: , “It ...
(Date:11/21/2014)... and SAN DIEGO , Nov. ... today announced that President and CEO Marc Hedrick , M.D. ... DATE:   Thursday, December 4, 2014 TIME:    ... here or paste this URL into your browser,s ... that investors pre-register to save time and receive event updates. ...
(Date:11/18/2014)... pH measurement and control is vital in ... and food and beverage industries. But what exactly is ... pH sensors work? METTLER TOLEDO has produced a guide ... with these questions and more. , METTLER TOLEDO provides ... industries. The actual sensor, the pH electrode, is therefore ...
(Date:11/18/2014)... 2014 Deep Research Report ... and in-depth report on Polytetrahydrofuran (PTMEG) market. ... its definition, characterization, application, and industry chain ... covers the worldwide business investigation, including China's ... macroeconomic environment & financial circumstance examination. , ...
Breaking Biology Technology:“Stephen Hawking Smoked My Socks” Sparks Controversy in Science World 2“Stephen Hawking Smoked My Socks” Sparks Controversy in Science World 3“Stephen Hawking Smoked My Socks” Sparks Controversy in Science World 4Cytori Therapeutics to Provide Corporate Update and Investor Presentation on December 4 through a Live, Interactive Webcast 2Cytori Therapeutics to Provide Corporate Update and Investor Presentation on December 4 through a Live, Interactive Webcast 3Cytori Therapeutics to Provide Corporate Update and Investor Presentation on December 4 through a Live, Interactive Webcast 4pH Guide from METTLER TOLEDO Explains Measurement, Theory and Practice of pH Applications 2PTMEG Market: 2019 Global Polytetrahydrofuran Industry Development Trends & Analysis Now at DeepResearchReports.com 2PTMEG Market: 2019 Global Polytetrahydrofuran Industry Development Trends & Analysis Now at DeepResearchReports.com 3
... , LELYSTAD, ... biotechnology company focusing on protein mimicking,technology for the generation of ... Ph.D. as new Chief Executive Officer. , ... corporate functions and,the overall management and strategic direction of the ...
... , NANJING, China, Dec. ... (NYSE: SCR ), a leading pharmaceutical company,specializing ... proprietary pharmaceuticals in China, today announced that 105 of,its ... List,("NDRL"), which was issued by China,s Ministry of Human ...
... ... announced that he has joined Carolina Eyecare Physicians and has launched his ... Group. Dr. Solomon is a proven LASIK, lens implant, and cataract ... improving vision correction surgery. He is a member of Trusted LASIK ...
Cached Biology Technology:Dutch Biotech Company Pepscan Appoints New CEO 2Simcere Announces 105 Drugs Included in China's National Drug Reimbursement List 2Simcere Announces 105 Drugs Included in China's National Drug Reimbursement List 3Charleston LASIK and Cataract Expert Dr. Kerry Solomon Opens New Practice and Launches DrKerrySolomon.com 2Charleston LASIK and Cataract Expert Dr. Kerry Solomon Opens New Practice and Launches DrKerrySolomon.com 3Charleston LASIK and Cataract Expert Dr. Kerry Solomon Opens New Practice and Launches DrKerrySolomon.com 4Charleston LASIK and Cataract Expert Dr. Kerry Solomon Opens New Practice and Launches DrKerrySolomon.com 5Charleston LASIK and Cataract Expert Dr. Kerry Solomon Opens New Practice and Launches DrKerrySolomon.com 6