Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Mutation found in dachshund gene may help develop therapies for humans with blindness

11.08.2008
Cone-rod dystrophies (CRDs) are a group of eye diseases caused by progressive loss of the photoreceptor cells in the retina.

In a study published online in Genome Research (www.genome.org), researchers have identified a novel mutation in a gene associated with CRD in dogs, raising hopes that potential therapies can be developed for people suffering from these eye disorders.

CRD represents a heterogeneous set of disorders characterized by progressive loss of retinal cone function. As these photoreceptor cells allow us to see in bright light, loss of cones results in what is commonly known as dayblindness, and can advance to blindness altogether. Thus far, investigations into the genetic basis for autosomal recessively inherited cases of human CRD have turned up only a few genes associated with the disorder, therefore it is likely there are other genes associated with CRD not yet identified.

Eye disorders are one of the most frequently inherited disorders in dogs, however canine CRD is limited to only a few breeds. A gene mutation had previously been associated with CRD in the miniature long-haired dachshund, while a genetic basis for CRD in the standard wire-haired dachshund and the pit bull terrier remained unknown. In this study, scientists led by Dr. Frode Lingaas of the Norwegian School of Veterinary Science and Dr. Kerstin Lindblad-Toh of the Broad Institute of MIT and Harvard have identified a mutation in a novel gene for early-onset CRD in standard wire-haired dachshund by genome-wide association mapping of a dachshund family.

The genome-wide strategy utilized by Lingaas' group isolated a region on chromosome 5 associated with CRD in dachshund. A search for mutations of this area revealed that a portion of the nephronophthisis 4 (NPHP4) gene has been deleted and is likely responsible for recessively inherited CRD in the standard wire-haired dachshund. The finding is particularly interesting, as the human form of NPHP4 has been previously implicated in disease. "This gene has been associated with a combination of kidney and eye disease in human patients," explained Lingaas. "Here, we found a mutation that affects only the eyes, suggesting that this gene might be a candidate for human patients with eye disease only."

The researchers suggest that the protein coded for by the mutant form of NPHP4 may lack a domain that would normally interact with other proteins involved in eye function, yet still retain the region involved in kidney function. "The new information that the NPHP4 gene can be involved in eye diseases only can shed light on the etiology of some low-frequency eye diseases in people where similar mutations may be involved," Lindblad-Toh said.

Lingaas noted that identification of causal mutations for diseases has practical implications for dogs, as genetic tests could be implemented to avoid new cases of the disorder and reduce the frequency of the mutation in the population. Furthermore, this investigation of the genetic basis for CRD in dogs could facilitate the development of treatments for humans.

Peggy Calicchia | EurekAlert!
Further information:
http://www.cshl.edu
http://www.genome.org

Further reports about: CRD Cone-rod dystrophies Genetic Mutation NPHP4 dachshund nephronophthisis

More articles from Life Sciences:

nachricht How brains surrender to sleep
23.06.2017 | IMP - Forschungsinstitut für Molekulare Pathologie GmbH

nachricht A new technique isolates neuronal activity during memory consolidation
22.06.2017 | Spanish National Research Council (CSIC)

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Can we see monkeys from space? Emerging technologies to map biodiversity

An international team of scientists has proposed a new multi-disciplinary approach in which an array of new technologies will allow us to map biodiversity and the risks that wildlife is facing at the scale of whole landscapes. The findings are published in Nature Ecology and Evolution. This international research is led by the Kunming Institute of Zoology from China, University of East Anglia, University of Leicester and the Leibniz Institute for Zoo and Wildlife Research.

Using a combination of satellite and ground data, the team proposes that it is now possible to map biodiversity with an accuracy that has not been previously...

Im Focus: Climate satellite: Tracking methane with robust laser technology

Heatwaves in the Arctic, longer periods of vegetation in Europe, severe floods in West Africa – starting in 2021, scientists want to explore the emissions of the greenhouse gas methane with the German-French satellite MERLIN. This is made possible by a new robust laser system of the Fraunhofer Institute for Laser Technology ILT in Aachen, which achieves unprecedented measurement accuracy.

Methane is primarily the result of the decomposition of organic matter. The gas has a 25 times greater warming potential than carbon dioxide, but is not as...

Im Focus: How protons move through a fuel cell

Hydrogen is regarded as the energy source of the future: It is produced with solar power and can be used to generate heat and electricity in fuel cells. Empa researchers have now succeeded in decoding the movement of hydrogen ions in crystals – a key step towards more efficient energy conversion in the hydrogen industry of tomorrow.

As charge carriers, electrons and ions play the leading role in electrochemical energy storage devices and converters such as batteries and fuel cells. Proton...

Im Focus: A unique data centre for cosmological simulations

Scientists from the Excellence Cluster Universe at the Ludwig-Maximilians-Universität Munich have establised "Cosmowebportal", a unique data centre for cosmological simulations located at the Leibniz Supercomputing Centre (LRZ) of the Bavarian Academy of Sciences. The complete results of a series of large hydrodynamical cosmological simulations are available, with data volumes typically exceeding several hundred terabytes. Scientists worldwide can interactively explore these complex simulations via a web interface and directly access the results.

With current telescopes, scientists can observe our Universe’s galaxies and galaxy clusters and their distribution along an invisible cosmic web. From the...

Im Focus: Scientists develop molecular thermometer for contactless measurement using infrared light

Temperature measurements possible even on the smallest scale / Molecular ruby for use in material sciences, biology, and medicine

Chemists at Johannes Gutenberg University Mainz (JGU) in cooperation with researchers of the German Federal Institute for Materials Research and Testing (BAM)...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Plants are networkers

19.06.2017 | Event News

Digital Survival Training for Executives

13.06.2017 | Event News

Global Learning Council Summit 2017

13.06.2017 | Event News

 
Latest News

Quantum thermometer or optical refrigerator?

23.06.2017 | Physics and Astronomy

A 100-year-old physics problem has been solved at EPFL

23.06.2017 | Physics and Astronomy

Equipping form with function

23.06.2017 | Information Technology

VideoLinks
B2B-VideoLinks
More VideoLinks >>>