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 Single-stranded DNA and RNA origami go live
15.12.2017 | Wyss Institute for Biologically Inspired Engineering at Harvard

nachricht New antbird species discovered in Peru by LSU ornithologists
15.12.2017 | Louisiana State University

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Error-free into the Quantum Computer Age

A study carried out by an international team of researchers and published in the journal Physical Review X shows that ion-trap technologies available today are suitable for building large-scale quantum computers. The scientists introduce trapped-ion quantum error correction protocols that detect and correct processing errors.

In order to reach their full potential, today’s quantum computer prototypes have to meet specific criteria: First, they have to be made bigger, which means...

Im Focus: Search for planets with Carmenes successful

German and Spanish researchers plan, build and use modern spectrograph

Since 2016, German and Spanish researchers, among them scientists from the University of Göttingen, have been hunting for exoplanets with the “Carmenes”...

Im Focus: First-of-its-kind chemical oscillator offers new level of molecular control

DNA molecules that follow specific instructions could offer more precise molecular control of synthetic chemical systems, a discovery that opens the door for engineers to create molecular machines with new and complex behaviors.

Researchers have created chemical amplifiers and a chemical oscillator using a systematic method that has the potential to embed sophisticated circuit...

Im Focus: Long-lived storage of a photonic qubit for worldwide teleportation

MPQ scientists achieve long storage times for photonic quantum bits which break the lower bound for direct teleportation in a global quantum network.

Concerning the development of quantum memories for the realization of global quantum networks, scientists of the Quantum Dynamics Division led by Professor...

Im Focus: Electromagnetic water cloak eliminates drag and wake

Detailed calculations show water cloaks are feasible with today's technology

Researchers have developed a water cloaking concept based on electromagnetic forces that could eliminate an object's wake, greatly reducing its drag while...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

See, understand and experience the work of the future

11.12.2017 | Event News

Innovative strategies to tackle parasitic worms

08.12.2017 | Event News

AKL’18: The opportunities and challenges of digitalization in the laser industry

07.12.2017 | Event News

 
Latest News

Error-free into the Quantum Computer Age

18.12.2017 | Physics and Astronomy

Disarray in the brain

18.12.2017 | Studies and Analyses

2 million euros in funding for new MR-compatible electrophysiological brain implants

18.12.2017 | Medical Engineering

VideoLinks
B2B-VideoLinks
More VideoLinks >>>