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:8/6/2015)... 2015  Today, U.S. Congressman Mike Honda ... to learn firsthand how Silicon Valley technologies can ... a world leader in multi-factor identity management and ... federal agencies and commercial organizations achieve new levels ... "The vast majority of network breaches can be ...
(Date:8/5/2015)... , Aug. 5, 2015 The biosensors market ... in applications, penetration into newer sectors, and development of ... global biosensors space has seen the entry of multiple ... so far. (Photo - http://photos.prnewswire.com/prnh/20150805/255570 ) ... Analysis of the Global Biosensors Market ( ...
(Date:7/31/2015)... China , 31 de julio de 2015 /PRNewswire/ ... Genómica (ICG-10,  www.icg-10.org ) del 22 al 25 de ... . La conferencia celebra su décimo aniversario ... ha convertido en una de las reuniones anuales más ... y es una de las conferencias científicas más dinámicas, ...
Breaking Biology News(10 mins):Rep. Honda to Visit Crossmatch in Redwood City 2Innovative Biosensors Incite Use in Non-Traditional Applications 2Innovative Biosensors Incite Use in Non-Traditional Applications 3Innovative Biosensors Incite Use in Non-Traditional Applications 4La 10ª Conferencia Internacional sobre Genómica (ICG-10) comienza en octubre 2La 10ª Conferencia Internacional sobre Genómica (ICG-10) comienza en octubre 3
... The European Commission has chosen the Human Brain Project, in ... of two Future and Emerging Technologies Flagship topics. The enterprise ... decade. The project will bring together top scientists ... the great challenges of modern science: understanding the human brain. ...
... show for the first time that primates modify their body ... do. Humans unconsciously modify their movements to be in ... to walk in step or clap in unison at the ... bonding and facilitate human interaction. Researchers from the RIKEN Brain ...
... cows that are fed flaxseed produce more nutritious milk, according ... milk contained more omega-3 fatty acids and less saturated fat, ... increase cholesterol and cause heart disease, while those rich in ... of heart disease, studies have shown. Traditional cattle feed ...
Cached Biology News:EU Commission selects Human Brain Project, with Israelis as partners 2Primates too can move in unison 2Cows fed flaxseed produce more nutritious dairy products 2
(Date:9/1/2015)... ... September 01, 2015 , ... Industry leader iLab Solutions ... In this newly-created position, Gibbs will lead iLab’s business operations in the region, ... tools. This entails not only introducing iLab to potential partners but support and ...
(Date:9/1/2015)... ... September 01, 2015 , ... ... of California Los Angeles, Boston University School of Medicine, Frederick National Laboratory for ... One, the world’s first multidisciplinary Open Access journal. , Christopher Ryan PhD, ...
(Date:9/1/2015)... 1, 2015 Shire plc (LSE: SHP, ... Mathew to its Board of Directors as a Non-Executive ... Compliance & Risk Committee of the Shire Board. Both appointments ... Sara previously served as Chairman, President and Chief Executive Officer ... During her 12-year tenure at D&B, she helped drive the ...
(Date:8/31/2015)... , Aug. 31, 2015 /PRNewswire/ - BIOREM Inc. (TSXV: BRM) ... $5.7 million. The orders are for air emission abatement projects in ... note is a large order for a municipality in the ... be replacing a competitor,s system that failed to meet the ... engineered solutions," said Derek S. Webb , President and ...
Breaking Biology Technology:iLab Solutions Hires Gerard Gibbs, Director of Business Development, Asia Pacific 2iLab Solutions Hires Gerard Gibbs, Director of Business Development, Asia Pacific 3Synedgen’s Director for Pharmaceutical Manufacturing Publishes New Research 2Synedgen’s Director for Pharmaceutical Manufacturing Publishes New Research 3Shire Appoints Sara Mathew to Board of Directors 2
... , EAST NORRITON, Pa. , Aug. 2 Tengion ... has appointed A. Brian Davis to the position of Chief ... Technologies, Inc., a biopharmaceutical company using enzymatic technologies to develop improved protein ... and research personnel at three sites.  , ...
... 2 Reportlinker.com announces that a new market research report is available in ... Asia Pacific Flexible ... , ... This research service ...
... represents one of the most fundamental processes in physics. ... in the summer due to the absorption of light ... or light-emitting diodes that convert electricity into light, we ... lives. Understanding the interactions between individual light particles ...
Cached Biology Technology:Tengion Appoints A. Brian Davis Chief Financial Officer 2Asia Pacific Flexible Alternating Current Transmission Equipment Markets 2Asia Pacific Flexible Alternating Current Transmission Equipment Markets 3Asia Pacific Flexible Alternating Current Transmission Equipment Markets 4Asia Pacific Flexible Alternating Current Transmission Equipment Markets 5Asia Pacific Flexible Alternating Current Transmission Equipment Markets 6Asia Pacific Flexible Alternating Current Transmission Equipment Markets 7One more step on the path to quantum computers 2
Vitronectin Immunogen: Purified, full length, native human protein. Storage: -20 C, Avoid Freeze/Thaw Cycles...
... Guava has made microcapillary flow cytometry accessible ... experts alike will appreciate the latest addition ... Pluseasy to use, surprising affordable, and very ... system includes such features as absolute cell ...
...
Fingerprinting II Basic software is used for analyzing fingerprint sample types (electrophoretic gels, HPLC and other chromatographic patterns, spectrophotometric and densitometric curves)....
Biology Products: