About one in 3,500 people are affected with retinitis pigmentosa (RP), a disease of the retina's visual cells that eventually leads to blindness. Now, a University of Missouri researcher has identified a genetic link between cats and humans for two different forms of RP. This discovery will help scientists develop gene-based therapies that will benefit both cats and humans.
"The same genetic mutations that cause retinal blindness in humans also cause retinal blindness in cats," said Kristina Narfstrom, the Ruth M. Kraeuchi-Missouri Professor in Veterinary Ophthalmology in the MU College of Veterinary Medicine. "Now, cats with these mutations can be used as important animal models to evaluate the efficiency of gene therapy. In addition, the eye is an ideal organ to use as we examine the potential of gene replacement intervention because it offers an accessible and confined environment."
Researchers examined the genetic mutations in two groups of cats; one with a congenital form of RP and another with a late-onset form and were able to identify the genes responsible for both forms of the disease in cats. In the study, researchers found that cats with the late-onset form of the disease have a mutation in the CEP290 gene, which is the same mutation found in humans with Joubert syndrome and Leber's congenital amaurosis. In both of these diseases, the genetic mutations result in changes in the function and structure of the photoreceptors. A photoreceptor is a nerve cell found in the eye's retina that is capable of phototransduction, or the process by which light is converted into electrical signals. The changes in the photoreceptors result in cell death, which lead to blindness.
"Cats are excellent models because they have relatively large eyes that are comparable to those of human babies. The retinal changes that occur and the progression to blindness in cats is similar to what happens in the human disease," Narfstrom said. "As a surgeon, I can use the same treatment methods and tools in cats that they use in humans."
Human autosomal recessive RP is among the most common cause of retinal degeneration and blindness, with no therapeutic intervention available. Initially it leads to night blindness, then loss of peripheral vision and, with progression, there is also a loss of central vision.
Like humans, Abyssinian cats with the CEP290 mutation have normal vision at birth but develop early changes in the interior of their eyes by the time they are approximately 2 years old. The cats with the congenital form of the disease are blind from birth with severe changes in the interior of their eyes after only a couple of months.
In May, Narfstrom will present her latest findings during the Association for Research in Vision and Ophthalmology 2009 Annual Meeting in Fort Lauderdale, Fla. An earlier study, "Mutation in CEP290 Discovered for Cat Model of Human Retinal Degeneration," was published in the Journal of Heredity.
Story Contact: Kelsey Jackson, (573) 882-8353, JacksonKN@missouri.edu
Kelsey Jackson | EurekAlert!
Further reports about: > Abyssinian cats > CAT > CEP290 > Eye > Genetic Link > Human Disease > Joubert syndrome > Leber's congenital amaurosis > Ophthalmology > blindness > central vision > diseases > genetic mutation > genetic mutations > peripheral vision > photoreceptors > retina's visual cells > retinal blindness > retinal degeneration > retinitis pigmentosa
‘Farming’ bacteria to boost growth in the oceans
24.10.2016 | Max-Planck-Institut für marine Mikrobiologie
Calcium Induces Chronic Lung Infections
24.10.2016 | Universität Basel
Terahertz excitation of selected crystal vibrations leads to an effective magnetic field that drives coherent spin motion
Controlling functional properties by light is one of the grand goals in modern condensed matter physics and materials science. A new study now demonstrates how...
Researchers from the Institute for Quantum Computing (IQC) at the University of Waterloo led the development of a new extensible wiring technique capable of controlling superconducting quantum bits, representing a significant step towards to the realization of a scalable quantum computer.
"The quantum socket is a wiring method that uses three-dimensional wires based on spring-loaded pins to address individual qubits," said Jeremy Béjanin, a PhD...
In a paper in Scientific Reports, a research team at Worcester Polytechnic Institute describes a novel light-activated phenomenon that could become the basis for applications as diverse as microscopic robotic grippers and more efficient solar cells.
A research team at Worcester Polytechnic Institute (WPI) has developed a revolutionary, light-activated semiconductor nanocomposite material that can be used...
By forcefully embedding two silicon atoms in a diamond matrix, Sandia researchers have demonstrated for the first time on a single chip all the components needed to create a quantum bridge to link quantum computers together.
"People have already built small quantum computers," says Sandia researcher Ryan Camacho. "Maybe the first useful one won't be a single giant quantum computer...
COMPAMED has become the leading international marketplace for suppliers of medical manufacturing. The trade fair, which takes place every November and is co-located to MEDICA in Dusseldorf, has been steadily growing over the past years and shows that medical technology remains a rapidly growing market.
In 2016, the joint pavilion by the IVAM Microtechnology Network, the Product Market “High-tech for Medical Devices”, will be located in Hall 8a again and will...
14.10.2016 | Event News
14.10.2016 | Event News
12.10.2016 | Event News
24.10.2016 | Earth Sciences
24.10.2016 | Life Sciences
24.10.2016 | Physics and Astronomy