HOME >> BIOLOGY >> NEWS
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
haury@gsf.de
49-893-187-2460
GSF - National Research Center for Environment and Health
6-Aug-2007


Page: 1 2 3

Related biology news :

1. Gilbert Foundation and American Fed for Aging Research award grants on Alzheimers disease
2. Research shows skeleton to be endocrine organ
3. Research aims to identify markers for menopausal women at risk for deadly blood clot
4. Research teams uncover risk genes for multiple sclerosis
5. Research shows NPD1 protects a key component of vision
6. Researchers find pathway that controls cell size and division
7. Researchers watch antibiotics, bacteria meet at atomic level
8. Researchers discover gene responsible for Restless Legs Syndrome
9. Research study describes the role part of the brain plays in memory
10. NY Stem Cell Foundations 2nd Annual Translational Stem Cell Research Conference
11. Researchers witness natural selection at work in dramatic comeback of male butterflies

Post Your Comments:
*Name:
*Comment:
*Email:


(Date:8/1/2019)... ... July 31, 2019 , ... Molecular ... launch of the next generation of its FLIPR® Penta High-Throughput Cellular Screening System. ... FLIPR® platform for monitoring of G-protein-coupled receptors (GPCRs) and ion channels, offering a ...
(Date:7/26/2019)... ANGELES (PRWEB) , ... July 26, 2019 , ... ... to announce an exclusive interview with Helius Medical Technologies CEO Phil Deschamps to ... trauma. , Helius Medical Technologies is a neurotech company in the ...
(Date:7/23/2019)... , ... July 23, 2019 , ... ... personalized, easy-to-understand, web-based genetic counseling, today announced that the company has expanded its ... MUTYH-associated polyposis (MAP), familial hypercholesterolemia (FH), and Parkinson’s disease. , The expanded content ...
Breaking Biology News(10 mins):
(Date:7/17/2019)... ... July 16, 2019 , ... Quidel is the market ... Information. Abbott, Roche and Siemens Healthineers and Response Biomedical also are among the ... Market for Point-of-Care (POC) Diagnostics . , Quidel is a market leader in ...
(Date:7/9/2019)... ... 2019 , ... Today, at the BIO World Congress on Industrial ... (NCGA) announced the winners of the Consider Corn Challenge II. Three winners were chosen, ... to produce biobased materials. , “Corn is a sustainable, abundant and affordable ...
(Date:7/2/2019)... ... July 02, 2019 , ... Leading Regenerative Veterinary Medicine company, VetStem ... Meet Biotech. The film focuses on regenerative veterinary medicine as a means of ... recently included in the Brentwood and Pacific Palisades International Film Festival in ...
(Date:6/18/2019)... ... June 17, 2019 , ... ... entered into an agreement for production and manufacturing of GMP-grade adeno-associated virus (AAV) ... rhodopsin-mediated autosomal dominant retinitis pigmentosa (RHO-adRP) and IC-200 for the treatment of BEST1 ...
Breaking Biology Technology:
Cached News: