Blindness Linked To The Cytoskeleton?

A research group at the Max Planck Institute for Molecular Genetics in Berlin identified the gene defect underlying a specific form of hereditary blindness, known as retinitis pigmentosa (nature genetics, Vol. 19, No. 4, August 1998).

Retinitis pigmentosa (RD) is characterized by premature cell death in the retina leading to a progressive contraction of the visual field in affected patients. The retina lines the back of the eye and contains different types of cells, including the photoreceptors and neurons. There are two main classes of photoreceptor cells: rods and cones. Rods are responsible for vision under dim light conditions while cones participate in fine and color vision. RP leads to a preferential loss of the rod photoreceptor cells and night blindness is one of the first clinical symptoms. During disease progression, cones are affected as well and patients become legally blind between the ages of 20 and 40.

The name ‘retinitis pigmentosa’ reflects observations with patients in whom ophthalmologists frequently recognize an abnormal pigmentation in the back of the eye as a consequence of the dying photoreceptor cells. So far, 14 genes were identified which, when defective, lead to the disease. Additional 14 loci were defined by genetic linkage analysis in families affected by the disease. In these cases, the genetic defect still has to be identified. Most of the genes involved in retinitis pigmentosa encode proteins from the so called ‘phototransduction cascade’, a complex biochemical mechanism which transforms the initial light stimulus to a chemical signal. The latter accomplishes the communication of the photoreceptor cells with the neurons of the retina.

Retinitis pigmentosa, due to a genetic defect, occurs with a frequency of 1 in 4,000 individuals and about 15-25%

Contact: Wolfgang Berger

Page: 1 2 3 4

Related biology news :

1. Research to Prevent Blindness awards $4.8 million
2. Ribozymes To The Rescue: New UF Gene Therapy Shows Promise For Treatment Of Inherited Blindness
3. Genetic Clue Found To The Leading Cause Of Blindness In The United States
4. Scientists Identify Key Protein Involved In Progressive Blindness
5. UNMC, Boys Town National Research Hospital Researchers Locate Gene That Causes Combined Deafness And Blindness
6. New Retinal Surgery May Reverse Legal Blindness
7. Dog Blindness Gene May Help Humans
8. Alzheimers Disease And Developmental Biology Linked Through Single Molecule
9. Role Of Protein Linked To Colon Cancer Identified, Offering Potential Target For Therapy
10. Seattle Researchers Zero In On Location Of Gene For Inherited Prostate Cancer; Gene Also Linked To Brain Cancer
11. Genetic Mutations Linked To Rare Metabolic Disease

Post Your Comments:

(Date:10/4/2017)... Ill. , Oct. 4, 2017  GCE Solutions, a global ... new data and document anonymization solution on October 4, 2017. Shadow ... pharmaceutical field to comply with policy 0070 of the European Medicines ... and data. ... by GCE Solutions ...
(Date:6/30/2017)... ARLINGTON, Va. , June 30, 2017 /PRNewswire-USNewswire/ ... a leading developer and supplier of face and ... the ATA Featured Product provider program. ... created an innovative way to monitor a driver,s ... benefit greatly from being able to detect fatigue ...
(Date:5/16/2017)... TEANECK, N.J. , May 16, 2017  Veratad ... leading provider of online age and identity verification solutions, ... the K(NO)W Identity Conference 2017, May 15 thru May ... Ronald Regan Building and International Trade Center. ... across the globe and in today,s quickly evolving digital ...
Breaking Biology News(10 mins):
(Date:10/12/2017)... ... October 12, 2017 , ... ... platform specifically designed for life science researchers to analyze and interpret datasets, ... Franklin, who made a major contribution to the discovery of the double-helix ...
(Date:10/11/2017)... ... October 11, 2017 , ... ComplianceOnline’s Medical Device Summit is back for its ... 2018 in San Francisco, CA. The Summit brings together current and former FDA office ... directors and government officials from around the world to address key issues in device ...
(Date:10/11/2017)... Tbilisi, Georgia (PRWEB) , ... October 11, 2017 , ... ... disaster, taking the lives of over 5.5 million people each year. Especially those living ... the greenovative startup Treepex - based in one of the most pollution-affected countries globally ...
(Date:10/10/2017)... Angeles, CA (PRWEB) , ... ... ... Inc., a development-stage cancer-focused pharmaceutical company advancing targeted antibody-drug conjugate (ADC) therapeutics, ... uses of targeted HPLN (Hybrid Polymerized Liposomal Nanoparticle), a technology developed in ...
Breaking Biology Technology:
Cached News: