Navigation Links
Retinal Gene Is Linked to Childhood Blindness

Discovery might someday yield therapies to restore sight, experts suggest

THURSDAY, March 5 (HealthDay News) -- A gene that plays a major role in two forms of childhood blindness has been identified by an international team of researchers.

The discovery of the link between the retinal gene SPATA7 and Leber congenital amaurosis (LCA) and retinitis pigmentosa is important because it pinpoints a new retinal metabolic disease pathway that might be crucial for many patients, according to the researchers. The finding could help lead to gene-based treatments, they say.

Previous research identified 14 genes involved in LCA, but SPATA7 is the first gene with a mutation that disrupts the protein transport between two important compartments of the cell -- the endoplasmic reticulum and the Golgi apparatus. Because all proteins in every cell have to pass through this transport system, a mutation in SPATA7 might affect many aspects of vision.

The study was published March 5 in The American Journal of Human Genetics.

"Until now, we were not aware that this cellular mechanism played a role in LCA or any other eye disease," the research team leader, Dr. Robert Koenekoop, director of pediatric ophthalmology and the McGill Ocular Genetics Laboratory at the Montreal Children's Hospital of McGill University Health Centre, said in a hospital news release.

"This is a very important step that opens up a number of new research avenues, particularly in our understanding of the specific cellular processes involved in blindness," Koenekoop said. "This finding also increases the number of potential therapeutic targets and, therefore, the chances of finding a treatment."

Sharon Colle, president and chief executive of The Foundation Fighting Blindness, said in the news release that "this is an incredible discovery that gives great hope to LCA patients and their families, that gene based therapies can and will be developed to restore sight." The foundation funded the research.

More information

The Foundation Fighting Blindness has more about LCA.

-- Robert Preidt

SOURCE: McGill University Health Centre, news release, March 5, 2009

Copyright©2009 ScoutNews,LLC.
All rights reserved  

Related medicine news :

1. Cell death from cytomegalovirus may bring new life to treatment of retinal disease
2. CA$2.4 million toward gene therapy for human degenerative retinal diseases
3. Anti-VEGF drugs for retinal diseases could have serious side effects, scientists caution
4. Anti-VEGF Drugs for Retinal Diseases Could Have Serious Side Effects, Scientists Caution
5. Painkiller May Prevent Diabetes-Related Retinal Damage
6. Severe retinal hemorrhaging is linked to severe motor vehicle crashes
7. MicroRNAs appear essential for retinal health
8. Ranibizumab Injections Reduce Retinal Swelling
9. Scientists learn whats up with a class of retinal cells in mice
10. Fluorescent Retinal Cells Warn of Eye Disease
11. Digital Healthcare Announces MacGregor Medical Center San Antonio to Utilize Retasure for Retinal Imaging Assessment
Post Your Comments:
Related Image:
Retinal Gene Is Linked to Childhood Blindness 
(Date:10/13/2017)... , ... October 13, 2017 , ... The Visiting Nurse ... Market. Featuring a collection of specialty vendors and unique items from across the nation, ... quality-focused health and wellness services offered by the VNA. The boutique will be ...
(Date:10/13/2017)... ... 2017 , ... Yisrayl Hawkins, Pastor and Overseer at The House of Yahweh, ... and least understood books in the Holy Scriptures, Revelation. The Book of Revelation paints ... for centuries. Many have tossed it off as mere rubbish, but Yisrayl Hawkins says ...
(Date:10/13/2017)... ... October 13, 2017 , ... “The Journey: From the Mountains ... possible to save lost souls in the Philippines. “The Journey: From the Mountains to ... dedicated teacher of the Bible. She has taught all ages and currently teaches a ...
(Date:10/12/2017)... ... October 12, 2017 , ... ... sleep apnea using cutting-edge Oventus O2Vent technology. As many as 18 ... characterized by frequent cessation in breathing. Oral appliances can offer significant relief to ...
(Date:10/12/2017)... (PRWEB) , ... October 12, 2017 , ... IsoComforter, Inc. ... products, announced today the introduction of an innovative new design of the shoulder pad. ... so you get maximum comfort while controlling your pain while using cold therapy. By ...
Breaking Medicine News(10 mins):
(Date:10/11/2017)... Holdings, Inc. ("Hill-Rom") (NYSE: HRC), today provided an update ... Puerto Rico , where the company manufactures ... Following a comprehensive onsite assessment, the ... temporary loss of power and minimal water damage due ... have resumed, and the company expects to return to ...
(Date:10/5/2017)... 2017  In response to the nationwide opioid ... Surgeons (AAOMS) released prescribing recommendations that urge ibuprofen ... as a first-line therapy to manage a patient,s ... Recognizing the value and importance of ... Prescribing: Acute and Postoperative Pain Management" stresses that ...
(Date:10/2/2017)... Diplomat Pharmacy, Inc. (NYSE: DPLO ... LLC , and named its founder as Diplomat,s chief ... Tennessee , will operate under Diplomat subsidiary ... offerings for health care partners to include IT outsourcing, ... "In an interoperable world, technology delivers comprehensive insight ...
Breaking Medicine Technology: