Featured Research

from universities, journals, and other organizations

University of Florida Discovery of Chicken Gene Mutation Aids Study of Rare Inherited Eye Disease

Date:
July 22, 1998
Source:
University of Florida
Summary:
GAINESVILLE, Fla. -- A University of Florida neuroscientist has discovered and cloned a mutant gene in blind chickens, helping researchers better understand a rare human eye disease that causes blindness at birth.

By Paul E. Ramey

Related Articles


GAINESVILLE, Fla. -- A University of Florida neuroscientist has discovered and cloned a mutant gene in blind chickens, helping researchers better understand a rare human eye disease that causes blindness at birth.

Sue Semple-Rowland, Ph.D., an associate professor of neuroscience inUF's College of Medicine and the UF Brain Institute, has established a specific type of the Rhode Island Red chicken as the animal model for studying the human disease, called Leber's congenital amaurosis type I, or LCA-I. She presented her work July 23 at the Eighth International Symposium on Retinal Degeneration in Schluchsee, Germany.

"The way the retina works is similar in chickens and humans, so I think it is reasonable to assume that what we develop in this lab for the chicken will be something that could be very useful in treating people," Rowland said.

Rowland now is developing a form of gene therapy for chickens with thedisease.

"The eye offers a unique opportunity to employ gene therapy because it is a closed system," she said. "The cells in the eye are highly specialized for the work they do, which enables us to better target them for gene therapy."

LCA-I is among the earliest and most severe forms of autosomal recessive inherited retinal degeneration. Autosomal recessive diseases occur when an offspring receives a defective copy of a particular gene from both parents.

The retina, a light-sensitive tissue at the back of the eye, containsphotoreceptors called rods and cones. The receptors convert light into electrical and chemical signals, which are then sent to visual centers in the brain through the optic nerve. In people with LCA-I and in the retinal-degeneration chicken, the defective guanylate cyclase gene failsto make a protein needed for this basic visual process.

Cones, the receptors that enable color vision, are essential for humansight. Chicken eyes have a high percentage of cones, which makes them excellentmodels for studying human eye diseases.

Inherited retinal diseases affect 100,000 to 200,000 people in theUnited States and more than 1 million worldwide. While only one to threepeople in 100,000 suffer from LCA, scientists speculate that successful genetherapy for this disease may be helpful in developing treatments for other autosomalrecessive diseases, such as cystic fibrosis.

Rowland has published several papers on her research, most recently in the February issue of the Proceedings of the National Academy of Sciences. A $1.1 million grant from the National Institutes of Health supports her research, and she has applied for a new NIH grant to further fund the gene therapy study.

Rowland is collaborating with Krzysztof Palczewski, Ph.D., of theUniversity of Washington, and Wolfgang Baehr, of the Moran Eye Center at theUniversity of Utah Health Science Center and Lung-Ji Chang, Ph.D., an associate professor of molecular genetics and microbiology in UF's College ofMedicine.

Three other UF College of Medicine researchers also are presenting theirwork at the retinal degeneration symposium. Bill Hauswirth, Ph.D., theRybaczki-Bullard eminent scholar of ophthalmology and molecular geneticsand microbiology, and Al Lewin, Ph.D., a professor in the department of molecular genetics and microbiology, will present information on AAV gene therapies for retinal diseases. Paul Hargrave, Ph.D., the Francis N. Bullard eminent scholar of ophthalmology and biochemistry and molecular biology, will present some of his most recent work on the visual pigment protein, rhodopsin. Hargrave has shown how mutations in this protein cause certain forms of inherited eye disease.

-----------------------------------------

Recent UF Health Science Center news releases also are available on the UF Health Science Center Office of Public Information home page. Point your browser to http://www.vpha.health.ufl.edu/hscc/index.html

For the UF Health Science Center topic/expert list, point your browser to http://www.health.ufl.edu/hscc/experts.html


Story Source:

The above story is based on materials provided by University of Florida. Note: Materials may be edited for content and length.


Cite This Page:

University of Florida. "University of Florida Discovery of Chicken Gene Mutation Aids Study of Rare Inherited Eye Disease." ScienceDaily. ScienceDaily, 22 July 1998. <www.sciencedaily.com/releases/1998/07/980722135922.htm>.
University of Florida. (1998, July 22). University of Florida Discovery of Chicken Gene Mutation Aids Study of Rare Inherited Eye Disease. ScienceDaily. Retrieved November 28, 2014 from www.sciencedaily.com/releases/1998/07/980722135922.htm
University of Florida. "University of Florida Discovery of Chicken Gene Mutation Aids Study of Rare Inherited Eye Disease." ScienceDaily. www.sciencedaily.com/releases/1998/07/980722135922.htm (accessed November 28, 2014).

Share This


More From ScienceDaily



More Health & Medicine News

Friday, November 28, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Ebola Leaves Orphans Alone in Sierra Leone

Ebola Leaves Orphans Alone in Sierra Leone

AFP (Nov. 27, 2014) — The Ebola epidemic sweeping Sierra Leone is having a profound effect on the country's children, many of whom have been left without any family members to support them. Duration: 01:02 Video provided by AFP
Powered by NewsLook.com
Experimental Ebola Vaccine Shows Promise In Human Trial

Experimental Ebola Vaccine Shows Promise In Human Trial

Newsy (Nov. 27, 2014) — A recent test of a prototype Ebola vaccine generated an immune response to the disease in subjects. Video provided by Newsy
Powered by NewsLook.com
Pet Dogs to Be Used in Anti-Ageing Trial

Pet Dogs to Be Used in Anti-Ageing Trial

Reuters - Innovations Video Online (Nov. 26, 2014) — Researchers in the United States are preparing to discover whether a drug commonly used in human organ transplants can extend the lifespan and health quality of pet dogs. Video provided by Reuters
Powered by NewsLook.com
Today's Prostheses Are More Capable Than Ever

Today's Prostheses Are More Capable Than Ever

Newsy (Nov. 26, 2014) — Advances in prosthetics are making replacement body parts stronger and more lifelike than they’ve ever been. Video provided by Newsy
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
 
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:  

Breaking News:

Strange & Offbeat Stories

 

Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:  

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile iPhone Android Web
Follow Facebook Twitter Google+
Subscribe RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins