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 A Map of the Cell’s Power Station
18.08.2017 | Albert-Ludwigs-Universität Freiburg im Breisgau

nachricht On the way to developing a new active ingredient against chronic infections
21.08.2017 | Deutsches Zentrum für Infektionsforschung

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Fizzy soda water could be key to clean manufacture of flat wonder material: Graphene

Whether you call it effervescent, fizzy, or sparkling, carbonated water is making a comeback as a beverage. Aside from quenching thirst, researchers at the University of Illinois at Urbana-Champaign have discovered a new use for these "bubbly" concoctions that will have major impact on the manufacturer of the world's thinnest, flattest, and one most useful materials -- graphene.

As graphene's popularity grows as an advanced "wonder" material, the speed and quality at which it can be manufactured will be paramount. With that in mind,...

Im Focus: Exotic quantum states made from light: Physicists create optical “wells” for a super-photon

Physicists at the University of Bonn have managed to create optical hollows and more complex patterns into which the light of a Bose-Einstein condensate flows. The creation of such highly low-loss structures for light is a prerequisite for complex light circuits, such as for quantum information processing for a new generation of computers. The researchers are now presenting their results in the journal Nature Photonics.

Light particles (photons) occur as tiny, indivisible portions. Many thousands of these light portions can be merged to form a single super-photon if they are...

Im Focus: Circular RNA linked to brain function

For the first time, scientists have shown that circular RNA is linked to brain function. When a RNA molecule called Cdr1as was deleted from the genome of mice, the animals had problems filtering out unnecessary information – like patients suffering from neuropsychiatric disorders.

While hundreds of circular RNAs (circRNAs) are abundant in mammalian brains, one big question has remained unanswered: What are they actually good for? In the...

Im Focus: RAVAN CubeSat measures Earth's outgoing energy

An experimental small satellite has successfully collected and delivered data on a key measurement for predicting changes in Earth's climate.

The Radiometer Assessment using Vertically Aligned Nanotubes (RAVAN) CubeSat was launched into low-Earth orbit on Nov. 11, 2016, in order to test new...

Im Focus: Scientists shine new light on the “other high temperature superconductor”

A study led by scientists of the Max Planck Institute for the Structure and Dynamics of Matter (MPSD) at the Center for Free-Electron Laser Science in Hamburg presents evidence of the coexistence of superconductivity and “charge-density-waves” in compounds of the poorly-studied family of bismuthates. This observation opens up new perspectives for a deeper understanding of the phenomenon of high-temperature superconductivity, a topic which is at the core of condensed matter research since more than 30 years. The paper by Nicoletti et al has been published in the PNAS.

Since the beginning of the 20th century, superconductivity had been observed in some metals at temperatures only a few degrees above the absolute zero (minus...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Call for Papers – ICNFT 2018, 5th International Conference on New Forming Technology

16.08.2017 | Event News

Sustainability is the business model of tomorrow

04.08.2017 | Event News

Clash of Realities 2017: Registration now open. International Conference at TH Köln

26.07.2017 | Event News

 
Latest News

Nagoya physicists resolve long-standing mystery of structure-less transition

21.08.2017 | Materials Sciences

Chronic stress induces fatal organ dysfunctions via a new neural circuit

21.08.2017 | Health and Medicine

Scientists from the MSU studied new liquid-crystalline photochrom

21.08.2017 | Materials Sciences

VideoLinks
B2B-VideoLinks
More VideoLinks >>>