Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Scientists link another gene to degenerative blindness

19.01.2006


A highly magnified view of a fruit fly’s eye.


Researchers have labored for decades to understand blindness-inducing neurodegenerative diseases such as age-related macular degeneration (AMD) and retinitis pigmentosa (RP).

It has been a painstaking scientific journey as AMD and RP each belong to a complex family of disorders, in which every disorder has many forms and each form is encoded with a distinct genetic recipe. Even AMD, a major cause of vision loss in people over 60, is actually a collection of more than 50 diseases.

Now, a team of researchers at the University of Wisconsin-Madison has taken a small but crucial step forward in the ongoing fight against retinal degeneration. Working with fruit flies, the scientists have discovered that a mutation in a common gene called calnexin can derail the light-processing activity of cells and set in motion the gradual breakdown of vision. They report their findings today in the journal Neuron.



Calnexin-found in both fruit flies and humans-functions as a cellular chaperone, ensuring that proteins "fold" or orient properly and get to the parts of the cell they need to go. It also modulates calcium levels, which is critical for proper vision.

When calnexin goes awry, however, calcium levels build up and the proteins that depend on it malfunction, says senior author Nansi Jo Colley, a medical geneticist at the UW-Madison departments of ophthalmology and genetics, and an affiliate of the Eye Research Institute.

At a time when more than 103 genes are known to be involved with AMD and RP, the UW-Madison work could one day help doctors deliver tailor-made treatments to patients who specifically carry calnexin mutations. Because the calnexin protein and other chaperones are also present in the brain, the work can help to answer broader questions about neurodegenerative disease, Colley adds.

"Understanding the basic mechanisms of how proteins are folded holds the key to finding treatments for not only retinal degenerative diseases but also other neurodegenerative diseases such as Alzheimer’s, Huntington’s and Parkinson’s."

To detect the calnexin mutation, the UW-Madison team used genetic mapping to zero in on the exact region harboring the mutant. Subsequent DNA sequencing of that target area pinpointed calnexin as the culprit gene, explains lead author Erica Rosenbaum, a researcher in Colley’s laboratory.

Colley plans to continue searching for other genetic mutations that might help trigger retinal degeneration. "The more mutations we identify the easier it will be to step back and look at the big picture of the general principles of neurodegeneration," she says.

Nansi Jo Colley | EurekAlert!
Further information:
http://www.wisc.edu

More articles from Life Sciences:

nachricht Cancer diagnosis: no more needles?
25.05.2018 | Christian-Albrechts-Universität zu Kiel

nachricht Less is more? Gene switch for healthy aging found
25.05.2018 | Leibniz-Institut für Alternsforschung - Fritz-Lipmann-Institut e.V. (FLI)

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Powerful IT security for the car of the future – research alliance develops new approaches

The more electronics steer, accelerate and brake cars, the more important it is to protect them against cyber-attacks. That is why 15 partners from industry and academia will work together over the next three years on new approaches to IT security in self-driving cars. The joint project goes by the name Security For Connected, Autonomous Cars (SecForCARs) and has funding of €7.2 million from the German Federal Ministry of Education and Research. Infineon is leading the project.

Vehicles already offer diverse communication interfaces and more and more automated functions, such as distance and lane-keeping assist systems. At the same...

Im Focus: Molecular switch will facilitate the development of pioneering electro-optical devices

A research team led by physicists at the Technical University of Munich (TUM) has developed molecular nanoswitches that can be toggled between two structurally different states using an applied voltage. They can serve as the basis for a pioneering class of devices that could replace silicon-based components with organic molecules.

The development of new electronic technologies drives the incessant reduction of functional component sizes. In the context of an international collaborative...

Im Focus: LZH showcases laser material processing of tomorrow at the LASYS 2018

At the LASYS 2018, from June 5th to 7th, the Laser Zentrum Hannover e.V. (LZH) will be showcasing processes for the laser material processing of tomorrow in hall 4 at stand 4E75. With blown bomb shells the LZH will present first results of a research project on civil security.

At this year's LASYS, the LZH will exhibit light-based processes such as cutting, welding, ablation and structuring as well as additive manufacturing for...

Im Focus: Self-illuminating pixels for a new display generation

There are videos on the internet that can make one marvel at technology. For example, a smartphone is casually bent around the arm or a thin-film display is rolled in all directions and with almost every diameter. From the user's point of view, this looks fantastic. From a professional point of view, however, the question arises: Is that already possible?

At Display Week 2018, scientists from the Fraunhofer Institute for Applied Polymer Research IAP will be demonstrating today’s technological possibilities and...

Im Focus: Explanation for puzzling quantum oscillations has been found

So-called quantum many-body scars allow quantum systems to stay out of equilibrium much longer, explaining experiment | Study published in Nature Physics

Recently, researchers from Harvard and MIT succeeded in trapping a record 53 atoms and individually controlling their quantum state, realizing what is called a...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

In focus: Climate adapted plants

25.05.2018 | Event News

Save the date: Forum European Neuroscience – 07-11 July 2018 in Berlin, Germany

02.05.2018 | Event News

Invitation to the upcoming "Current Topics in Bioinformatics: Big Data in Genomics and Medicine"

13.04.2018 | Event News

 
Latest News

In focus: Climate adapted plants

25.05.2018 | Event News

Flow probes from the 3D printer

25.05.2018 | Machine Engineering

Less is more? Gene switch for healthy aging found

25.05.2018 | Life Sciences

VideoLinks
Science & Research
Overview of more VideoLinks >>>