Research team enlightens the reasons for severe blindness

People suffering from a severe retinal disease will sooner or later lose their eyesight considerably or even become completely blind. Those affected, family members, researchers and doctors hope that this fate might be avoided one day by a better understanding of the reasons for this disease. Coordinated by the geneticist Ronald Roepman from Nijemegen, an important step has now been made in this direction by an international research team with the participation of the GSF - National Research Center for Environment and Health: they identified a further gene for the inherited retinal disease Leber Congenital Amaurosis (LCA) and discovered first evidences how it functions. This represents new opportunities for gene therapy, which especially for LCA, is considered as very promising since the disease is caused by a single mutation.

LCA causes blindness very early on often shortly after or within a few months of birth. The disease can be caused through a single mutation in different genes; with the newly discovered LCA5 gene, ten disease-causing genes had been identified so far which are responsible for approx. 60 % of all LCA diseases. All these deficiencies lead in the end to the same symptoms, however, in order to treat the disease efficiently with the individual patient, it is important to know which gene mutation occurred in the specific case and what it causes, underlines Dr. Marius Ueffing (GSF Institute for Human Genetics), who leads the project at GSF.

The LCA5 gene encodes the lebercilin, a so far unknown protein. Through proteomic methods, Ueffings team could demonstrate that lebercilin specifically interacts with other proteins which play a role in the protein transport in the cells. Thus the scientists concluded that lebercilin is relevant for the protein transport within the optical cell: as shown by electro-microscopic pictures, within the optical cell described as the photoreceptor, lebercilin binds the most to the so-called cilium,

Contact: Heinz-Joerg Haury
GSF - National Research Center for Environment and Health

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