Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Researchers find new insights into inherited retinal disease

18.01.2010
An international team of scientists, led by researchers at the University of California, San Diego School of Medicine have discovered new links between a common form of inherited blindness affecting children and a gene known as Abelson helper integration site-1 (AHI1).

Their findings, which may lead to new therapies and improved diagnostics for retinal disease, will appear online in advance of publication in the journal Nature Genetics on January 17.

A newly recognized class of disease known as "ciliopathies" has caught the attention of the medical community. Ciliopathies are caused by problems in the structure and/or function of cilia, which are small antenna-like structures protruding from the surface of most cells.

The function of cilia has not been understood, but patients with ciliopathies can suffer from a spectrum of problems including retinal blindness, obesity, renal failure, liver fibrosis and mental impairment. Major breakthroughs in the past few years have linked many forms of these diseases with defects in the structure or signaling capacity of the cilia in cells as diverse as retinal, fat, kidney, liver and nerve cells. Because cilia are so widely present on cells throughout the body, many seemingly unrelated diseases are now known to be related through functions of cilia.

"We are just beginning to uncover the genetic causes for these disorders, but more research is needed to understand why patients with these particular genetic alterations have such variable diseases," said Joseph G. Gleeson, MD, professor of neurosciences and pediatrics at UC San Diego and Howard Hughes Medical Institute Investigator, who supervised the work.

The scientists, led by Gleeson and UCSD graduate student Carrie M. Louie, discovered that loss of the AHI1 gene, which had already been found to cause Joubert Syndrome, a ciliopathy of mental retardation and impaired balance, also caused severe early onset retinal degeneration in the mouse model that they created. This model resembled the most common form of inherited blindness, which is due to degeneration of the retina at an early age.

Further investigation revealed that retinal photoreceptor cells in the mouse model were most likely dying as a result of a toxic accumulation of the very photopigment that receives light signals in the eye and is crucial for normal vision. This finding sheds light on one of the potential causes of retinal degeneration, protein mis-trafficking, which has been of fundamental interest in the study of inherited blindness, according to Gleeson.

The group then tested whether mutations in genes might contribute to retinal blindness in other related diseases. Their analysis of a group of European patients suggests that this is the case. The scientists found that patients carrying a particular genetic alteration were between five and ten times more likely to have retinal blindness, and that some forms of this blindness may be particularly amenable to gene therapy.

"These results may lead to better screening and future therapies for congenital blindness," said Louie. "As routine sequencing of the human genome becomes more and more feasible, studies like ours will help pinpoint which genetic alterations increase the risk of having a certain disease, or the likelihood that your children will have the disease."

Additional contributors to the study include Gianluca Caridi and Gian Marco Ghiggeri of the Giannina Gaslini Institute of Genoa, Italy; Vanda S. Lopes and David S. Williams of the Jules Stein Eye Institute, UCLA; Francesco Brancati and Enza Maria Valente of the CSS-Mendel Institute and G. d'Annunzio University, Italy; Andreas Kispert of the Institute for Molecular Biology, Hannover Medical School, Germany; Madeline Lancaster and Andrew Schlossman of UC San Diego; Edgar A. Otto, John F. O'Toole, and Friedhelm Hildebrandt of the University of Michigan; Michael Leitges of the Biotechnology Centre of Oslo, Norway; Hermann-Josef Groene of the German Cancer Research Center of Heidelberg, Germany; Irma Lopez and Robert K. Koenekoop of the McGill University Health Centre, Canada; Harini V. Gudiseva and Radha Ayyagari of UC San Diego; Elena Vallespin and Carmen Ayuso of the Fundación Jiménez Díaz, Spain, Frans P. Cremers and Anneke I den Hollander of the Radboud University Nijmegen, the Netherlands; and Bruno Dallapiccola of the Bambino Gesù Hospital, Italy.

This study was funded in part by the National Institutes of Health, the Burroughs Wellcome Fund, and the Howard Hughes Medical Institute.

Debra Kain | EurekAlert!
Further information:
http://www.ucsd.edu

More articles from Life Sciences:

nachricht Could this protein protect people against coronary artery disease?
17.11.2017 | University of North Carolina Health Care

nachricht Microbial resident enables beetles to feed on a leafy diet
17.11.2017 | Max-Planck-Institut für chemische Ökologie

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: A “cosmic snake” reveals the structure of remote galaxies

The formation of stars in distant galaxies is still largely unexplored. For the first time, astron-omers at the University of Geneva have now been able to closely observe a star system six billion light-years away. In doing so, they are confirming earlier simulations made by the University of Zurich. One special effect is made possible by the multiple reflections of images that run through the cosmos like a snake.

Today, astronomers have a pretty accurate idea of how stars were formed in the recent cosmic past. But do these laws also apply to older galaxies? For around a...

Im Focus: Visual intelligence is not the same as IQ

Just because someone is smart and well-motivated doesn't mean he or she can learn the visual skills needed to excel at tasks like matching fingerprints, interpreting medical X-rays, keeping track of aircraft on radar displays or forensic face matching.

That is the implication of a new study which shows for the first time that there is a broad range of differences in people's visual ability and that these...

Im Focus: Novel Nano-CT device creates high-resolution 3D-X-rays of tiny velvet worm legs

Computer Tomography (CT) is a standard procedure in hospitals, but so far, the technology has not been suitable for imaging extremely small objects. In PNAS, a team from the Technical University of Munich (TUM) describes a Nano-CT device that creates three-dimensional x-ray images at resolutions up to 100 nanometers. The first test application: Together with colleagues from the University of Kassel and Helmholtz-Zentrum Geesthacht the researchers analyzed the locomotory system of a velvet worm.

During a CT analysis, the object under investigation is x-rayed and a detector measures the respective amount of radiation absorbed from various angles....

Im Focus: Researchers Develop Data Bus for Quantum Computer

The quantum world is fragile; error correction codes are needed to protect the information stored in a quantum object from the deteriorating effects of noise. Quantum physicists in Innsbruck have developed a protocol to pass quantum information between differently encoded building blocks of a future quantum computer, such as processors and memories. Scientists may use this protocol in the future to build a data bus for quantum computers. The researchers have published their work in the journal Nature Communications.

Future quantum computers will be able to solve problems where conventional computers fail today. We are still far away from any large-scale implementation,...

Im Focus: Wrinkles give heat a jolt in pillared graphene

Rice University researchers test 3-D carbon nanostructures' thermal transport abilities

Pillared graphene would transfer heat better if the theoretical material had a few asymmetric junctions that caused wrinkles, according to Rice University...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Ecology Across Borders: International conference brings together 1,500 ecologists

15.11.2017 | Event News

Road into laboratory: Users discuss biaxial fatigue-testing for car and truck wheel

15.11.2017 | Event News

#Berlin5GWeek: The right network for Industry 4.0

30.10.2017 | Event News

 
Latest News

NASA detects solar flare pulses at Sun and Earth

17.11.2017 | Physics and Astronomy

NIST scientists discover how to switch liver cancer cell growth from 2-D to 3-D structures

17.11.2017 | Health and Medicine

The importance of biodiversity in forests could increase due to climate change

17.11.2017 | Studies and Analyses

VideoLinks
B2B-VideoLinks
More VideoLinks >>>