Estudio de Penn traza camino para la cura de enfermedad hereditaria del ojoContributed by: Anonymous · Views: 1,492
Contributed by: Anonymous · June 23, 2007 @ 06:11 AM MDT · Views: 1,492
Penn Study Maps Road to Cure for Inherited Eye Diseases
(PHILADELPHIA) – Researchers at the University of Pennsylvania School of Medicine have identified proteins in the rod and cones of the eye that could lead to the discovery of the genetic causes of a host of inherited eye diseases. The investigators hope to gain a clearer understanding of what goes wrong at the most basic level in these diseases that cause blindness and other disorders.
Photoreceptor sensory cilia (top part of rod cell) are the light sensitive parts of the rods and cones in the eye's retina.
“We want to understand how cilia work normally and how their function is disrupted in disease, because their dysfunction is such an important cause of disease,” says senior author Eric A. Pierce, MD, PhD, Associate Professor of Ophthalmology at the F.M. Kirby Center for Molecular Ophthalmology at Penn. “One of the first steps to achieve this is to put together a complete parts list. Now that we have that, we can figure out how all 2000 proteins we’ve identified fit together correctly.”
The study will appear in the August print issue of Molecular & Cellular Proteomics and has been pre-published online.
Isolated mouse photoreceptor sensory cilium. The rootlet is in red and the axoneme in green.
Lead author Qin Liu, MD, PhD, Research Assistant Professor, and Pierce collaborated with a team at The Wistar Institute led by David Speicher to perform the analyses for this study. The researchers used mass spectrometry to identify and measure the amounts of proteins in mouse photoreceptor sensory cilia. They found many proteins in the cilia that had not been identified in photoreceptors before. This includes proteins involved in intraflagellar transport, which is a process that moves materials from the cell body into the cilia. Mutations in proteins associated with this transport system lead to a number of cilia-related diseases.
The investigators also found 60 proteins encoded by genes on chromosomes implicated in 23 inherited cilia-related disorders. Armed with this knowledge, researchers hope to be able to more quickly find the exact genetic mutations that cause these 23 cilia diseases, which include eye and kidney diseases, among others.
Pierce is a pediatric ophthalmologist who specializes in caring for children with inherited retinal degenerations. He says that about half of his patients with degenerative eye diseases have a type of disease that can be identified according to its genetic mutation. He believes that this research will help identify the genetic causes behind the other half of his patients’ conditions.
“We’re narrowing the field,” says Pierce. “This research in and of itself can’t find a cure, but it’s a great start because it tells you what proteins to study.”
Co-authors also include Edward N. Pugh, Jr., from Penn; Glenn Tan, Natasha Levenkova, and John J. Rux, of the Wistar Institute; and Tiansen Li of Harvard Medical School. The National Eye Institute, the F.M. Kirby Foundation, The Foundation Fighting Blindness, Research to Prevent Blindness, the Rosanne H. Silbermann Foundation, the Mackall Foundation Trust, and the Commonwealth University Research Enhancement Program provided funding for this research.
Courtesy Penn Medicine