Research
Breakthrough
For the
Leading
Cause of
Blindness |
 |
||
Thursday:
February 20:
2020: Cardiff
University News || ά.
Researchers have
identified a new
protein, linked
to Age-related
Macular
Degeneration:AMD,
that could offer
new hope for the
diagnosis and
treatment of the
disease, which
affects more
than 01.5
million people
in the UK alone.
The research
team, made up of
scientists from
Cardiff
University,
Queen Mary
University of
London, the
University of
Manchester, and
Radboud
University
Medical Centre,
Nijmegen, found
significantly
higher levels of
a protein,
called, factor
H-related
protein
four:FHR-4 in
the blood of AMD
patients.
Further
investigation,
using eye
tissue, donated
for medical
research, showed
the presence of
the FHR-four
protein within
the macula, the
specific region
of the eye,
affected by the
disease. The
results of the
Study, published
in Nature
Communications,
open up new
routes for the
early diagnosis,
by measuring FHR-four
levels in the
blood and
suggests
therapies,
targeting this
protein could
provide
promising future
treatment
options for the
disease.
Professor Paul
Morgan, an
expert in
Complement
Biology at
Cardiff
University and a
leader in the
development of
the antibodies
and assays, that
underpinned this
work, said,
‘’The
collaboration
between experts
in Complement
Biology, eye
disease and
Genetics across
Europe has
enabled the
accumulation of
a robust body of
evidence, that
genetically
dictated FHR-four
levels in plasma
are an important
predictor of
risk of
developing AMD.
‘The unique
antibodies and
assays we have
developed have
potential not
only for
contributing to
risk prediction
but, also, to
new ways of
treating this
common and
devastating
disease.
FHR-four
regulates the
complement
system, part of
the immune
system, which
plays a critical
role in
inflammation and
the body’s
defence against
infection.
Previous studies
have linked the
complement
system to AMD,
showing that
genetically-inherited
faults in key
complement
proteins are
strong risk
factors for the
condition.
In this Study,
the researchers
used a genetic
technique, known
as a genome-wide
association
study, to
identify
specific changes
in the genome
related to the
increased levels
of FHR-four
found in AMD
patients.
They found
higher blood
FHR-four levels
were associated
with changes to
genes that code
for proteins
belonging to the
factor H family,
which clustered
together within
a specific
region of the
genome. The
identified
genetic changes,
also, overlapped
with genetic
variants first
found to
increase the
risk of AMD over
20 years ago.
Together, the
findings suggest
that inherited
genetic changes
can lead to
higher blood
FHR-four levels,
which results in
uncontrolled
activation of
the complement
system within
the eye and
drive disease.
Blood levels of
FHR-four were
measured in 484
patients and 522
age-matched
control samples,
using two
independent,
established
collections of
AMD patient
data.
There are two
main types of
AMD: Wet AMD and
Dry AMD. While
some treatment
options exist
for Wet AMD,
there is
currently no
available
treatment for
Dry AMD. The
authors said
that the Study
represented a
step change in
their
understanding of
the involvement
of complement
activation in
AMD.
Professor Simon
Clark, a
specialist in
the regulation
of the
complement
system in health
and disease at
the University
of Manchester,
said, “Up until
now, the role
played by FHR
proteins in
disease has only
ever been
inferred. But
now we show a
direct link and,
more excitingly,
become a
tangible step
closer to
identifying a
group of
potential
therapeutic
targets to treat
this
debilitating
disease.”
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