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Last Updated: Monday, 19 September 2005, 01:28 GMT 02:28 UK
Inherited child blindness probed
Image of a baby
Leber congenital amaurosis is hereditary
UK scientists are exploring a way to stop babies being born with a form of blindness that runs in families.

Leber congenital amaurosis usually causes total blindness from birth as a result of mutations in certain genes passed down from the parents.

Researchers at University College London believe the key to the disease lies in eye proteins these genes hold the code for, and how they interact.

The Action Medical Research work will home in on one gene and its protein.

Lead investigator Professor Mike Cheetam said: "Unlike some of the other genes that cause LCA, we don't know exactly what this AIPL1 protein does.

"But we know that it causes a severe form of the disease when it's mutated, so it's important to understand what it does in the eye."

Molecular chaperone

He said they could tell from its similarity to other proteins that it is likely to act as a molecular chaperone, escorting proteins round the body and disposing of them if they start to misbehave.

Dr Cheetam's team aims to track the proteins which AIPL1 protein escorts, and what happens when things go wrong in LCA.

The disease happens because the light sensors in the eye - called rods and cones - do not work as they should.

AIPL1 is present in rods and cones while the eye develops, but only in rods in adults.

It would be an unbelievable breakthrough
Professor Alistair Fielder, professor of ophthalmology at City University

Dr Cheetam believes that somehow in the later stages of pregnancy or in early childhood the cone cells "switch off" the AIPL1 gene.

In his studies, he will use a half of an essential yeast enzyme which will attach to AIPL1. The other half of the enzyme will attach to the many possible proteins made by the eye as it develops.

Only when the two halves come together will the yeast grow.

When the researchers see the yeast growing, they will know the proteins have interacted.

Professor Alistair Fielder, professor of ophthalmology at City University and member of the Royal National Institute of the Blind, said: "It's incredibly exciting.

"LCA is a pretty devastating condition. There is no treatment.

"If this work offers help for these children it would be fantastic. It would be an unbelievable breakthrough."

He said that currently, fewer than a quarter of the causes of childhood blindness were treatable.




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23 Oct 03 |  Health


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