Scientists at Trinity College find gene linked to the damage that causes
vision impairment and blindness
Eilish O'Regan
Scientists at Trinity College in Dublin have found a genetic target that
could provide a breakthrough for helping treat many forms of blindness.
The scientists have said a specific gene, SARM1, is a key driver in the
damage that ultimately leads to impaired vision and sometimes blindness.
In a disease model it was shown that deleting this gene protects vision
after a chemical kick-starts the ‘chain of dysfunction’ that mimics a
host of eye conditions.
This means that therapies targeting suppression of SARM1 activity may
hold the key to effective new options for treating a suite of diseases
that can have a devastating impact on quality of life – and for many of
which there are no treatment options currently available.
The scientists, led by a team from Trinity’s school of genetics and
microbiology, have published their findings in the International Journal
of Molecular Sciences.
Paper co-author Laura Finnegan, a PhD candidate at Trinity, said
SARM1 in response to injury contributes to a process that leads to the
degeneration of specialised cells and their nerve fibres in the eye.
“When this happens it essentially means that the optic nerve can no
longer deliver signals from the eye to the brain,” she said.
“Impaired vision and blindness is extremely debilitating for millions of
people across the globe, which is one of the main motivations for us to
seek to better understand the genetic causes and, potentially, develop
life-changing therapies.”
Jane Farrar, professor in Trinity’s school of genetics and microbiology
and a senior author on the paper said: “Another important finding was
that visual function was still preserved when reassessed four months
after SARM1 was deleted, indicating the benefits can remain over time.
“This raises hopes that a targeted therapy delivered early enough may
offer people diagnosed with an ocular neuropathy long-lasting
preservation of sight.
"We have a way to go before such a therapy is available but this work
represents a significant step.”
Irish Independent
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