Dear Friends of Medical Science and Genetics,
Inherited child blindness probed http://news.bbc.co.uk/1/hi/health/4250226.stm
UK scientists are exploring a way to stop babies being born with a form of
blindness that runs in families. (such families who runs blind ness in
generations (Ashavin maharaj and his father and uncle too- have NO diabetes)
are in madhapar but we never paid an attention to investigate such cause and
possible way to stop that - and thats we are lacking)
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.

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.


Forwarded by yours :- Dr.BHUDIA-Science Group Of INDIA.
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President:"Kutch Science Foundation".
Founder :"Kutch Amateurs Astronomers Club - Bhuj - Kutch".
Life Member:"kutch Itihaas Parishad".
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