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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.
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By Paul E. Ramey

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.

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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


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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 April 25, 2015 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 April 25, 2015).

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