Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

New cataract gene discovered

15.02.2008
Breakthrough in study of childhood cataracts

Researchers at ETH Zurich and the University Zurich have identified the chromosomal location and exact molecular defect in the coding region of the gene responsible for a childhood cataract. Until now, no human disease could be associated with this gene. The researchers' results will be published in the 'American Journal of Human Genetics'.

The international team of researchers was able to identify the location and defect in the coding region of the gene through analysis of genetic material (DNA) from members of a large Swiss family, the majority of whom suffered from autosomal dominant juvenile cataract. The corresponding protein belongs to a family of monocarboxylate transporters which move small molecules across cell membranes. Surprisingly, this genetic defect may also lead to the condition of renal glucosuria, a non-pathological kidney defect with elevated levels of glucose in the urine, but not in blood.

New research underway

... more about:
»age-related »cataract »defect »lens

The search for the molecule that is carried by this new transporter across the membrane has now begun. The researchers suspect that this genetic defect interferes with homeostasis in the lens as well as in the kidney. Since the known environmental risk factors for age-related cataract point to physiological and oxidative damages accumulating over time within the lens, the researchers assume that defects in this newly discovered transporter may also be a cause of age-related cataract. Age-related cataract patients are now being screened to find mutations in this gene. Understanding the exact function of this transporter may open new venues for non-surgical treatment of cataract.

Gradual blurred vision

Cataract, the condition of altered refractive index in the lens of the eye, is the clouding of the eye's normally clear lens and results in blurry vision that frequently includes disturbing glare in the visual field. Successful treatment today involves surgical removal of the affected lens and replacement with an artificial one.

Two conditions of cataract

Age onset of cataract is the distinguishing characteristic between affliction in childhood or in later years. Whereas about 14% of blind children are affected, half of the adult population worldwide aged 60 and older suffers from age-related cataract. Various underlying defects cause its development. Research in molecular and genetic science has enabled identification of several genes that play an important role in structural or regulatory functions in lens cells. Al-though all cataract genes identified to date are known to affect children, genetic factors for age-related cataract continue to remain widely undiscovered.

Original paper:
Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cata-ract with microcornea and renal glucosuria.
Barbara Kloeckener-Gruissem+* 1,2, Kristof Vandekerckhove*3,4, Gudrun Nürnberg5,7, John Neid-hardt1, Christina Zeitz1,8, Peter Nürnberg5,6, Isaak Schipper3 and Wolfgang Berger1
1 Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genet-ics, University Zurich, Switzerland; 2 Department of Biology, ETH, Zurich, Switzerland; 3 Eye Clinic, Kanton Hospital Luzern, Switzerland; 4 present address: Eye Clinic, Inselspital, Bern, Switzerland; 5 Cologne Center for Genomics, University of Cologne, Germany; 6 Institute for Genetics, University of Cologne, Germany; 7 RZPD Deutsches Ressourcenzentrum für Ge-nomforschung GmbH, Berlin, Germany; 8 present address: UMR S 592, Institut de la Vision, Université Paris, Paris, France
* these authors showed equal contribution
+ Corresponding author
Ref: AJHG-D-07-00111R4, Kloeckener

Dr. Barbara Kloeckener-Gruissem | idw
Further information:
http://www.ethz.ch

Further reports about: age-related cataract defect lens

More articles from Life Sciences:

nachricht Scientists uncover the role of a protein in production & survival of myelin-forming cells
19.07.2018 | Advanced Science Research Center, GC/CUNY

nachricht NYSCF researchers develop novel bioengineering technique for personalized bone grafts
18.07.2018 | New York Stem Cell Foundation

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Future electronic components to be printed like newspapers

A new manufacturing technique uses a process similar to newspaper printing to form smoother and more flexible metals for making ultrafast electronic devices.

The low-cost process, developed by Purdue University researchers, combines tools already used in industry for manufacturing metals on a large scale, but uses...

Im Focus: First evidence on the source of extragalactic particles

For the first time ever, scientists have determined the cosmic origin of highest-energy neutrinos. A research group led by IceCube scientist Elisa Resconi, spokesperson of the Collaborative Research Center SFB1258 at the Technical University of Munich (TUM), provides an important piece of evidence that the particles detected by the IceCube neutrino telescope at the South Pole originate from a galaxy four billion light-years away from Earth.

To rule out other origins with certainty, the team led by neutrino physicist Elisa Resconi from the Technical University of Munich and multi-wavelength...

Im Focus: Magnetic vortices: Two independent magnetic skyrmion phases discovered in a single material

For the first time a team of researchers have discovered two different phases of magnetic skyrmions in a single material. Physicists of the Technical Universities of Munich and Dresden and the University of Cologne can now better study and understand the properties of these magnetic structures, which are important for both basic research and applications.

Whirlpools are an everyday experience in a bath tub: When the water is drained a circular vortex is formed. Typically, such whirls are rather stable. Similar...

Im Focus: Breaking the bond: To take part or not?

Physicists working with Roland Wester at the University of Innsbruck have investigated if and how chemical reactions can be influenced by targeted vibrational excitation of the reactants. They were able to demonstrate that excitation with a laser beam does not affect the efficiency of a chemical exchange reaction and that the excited molecular group acts only as a spectator in the reaction.

A frequently used reaction in organic chemistry is nucleophilic substitution. It plays, for example, an important role in in the synthesis of new chemical...

Im Focus: New 2D Spectroscopy Methods

Optical spectroscopy allows investigating the energy structure and dynamic properties of complex quantum systems. Researchers from the University of Würzburg present two new approaches of coherent two-dimensional spectroscopy.

"Put an excitation into the system and observe how it evolves." According to physicist Professor Tobias Brixner, this is the credo of optical spectroscopy....

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

Leading experts in Diabetes, Metabolism and Biomedical Engineering discuss Precision Medicine

13.07.2018 | Event News

Conference on Laser Polishing – LaP: Fine Tuning for Surfaces

12.07.2018 | Event News

11th European Wood-based Panel Symposium 2018: Meeting point for the wood-based materials industry

03.07.2018 | Event News

 
Latest News

A smart safe rechargeable zinc ion battery based on sol-gel transition electrolytes

20.07.2018 | Power and Electrical Engineering

Reversing cause and effect is no trouble for quantum computers

20.07.2018 | Information Technology

Princeton-UPenn research team finds physics treasure hidden in a wallpaper pattern

20.07.2018 | Materials Sciences

VideoLinks
Science & Research
Overview of more VideoLinks >>>