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Analysis of protein composition and protein expression in the tear fluid of patients with congenital aniridia.
[aniridia]
Aniridia
is
a
rare
congenital
genetic
disorder
caused
by
haploinsuffiency
of
the
PAX
6
gene
,
the
master
gene
for
development
of
the
eye
.
The
expression
of
tear
proteins
in
aniridia
is
unknown
.
To
screen
for
proteins
involved
in
the
aniridia
pathophysiology
,
the
tear
fluid
of
patients
with
diagnosed
congenital
aniridia
was
examined
using
two
-dimensional
electrophoresis
(
2
-
DE
)
and
liquid
chromatography-tandem
mass
spectrometry
(
LC
-
MS
/
MS
)
.
Two
-dimensional
map
of
tear
proteins
in
aniridia
has
been
established
and
7
proteins
were
differentially
expressed
with
P
<
0
.
01
between
aniridia
patients
and
control
subjects
.
Five
of
them
were
more
abundant
in
healthy
subjects
,
particularly
α-enolase
,
peroxiredoxin
6
,
cystatin
S
,
gelsolin
,
apolipoprotein
A-
1
and
two
other
proteins
,
zinc-α
2
-
glycoprotein
and
lactoferrin
were
more
expressed
in
the
tears
of
aniridia
patients
.
Moreover
,
immunoblot
analysis
revealed
elevated
levels
of
vascular
endothelial
growth
factor
(
VEGF
)
in
aniridia
tears
which
is
in
concordance
with
clinical
finding
of
pathological
blood
and
lymph
vessels
in
the
central
and
peripheral
cornea
of
aniridia
patients
.
The
proteins
with
different
expression
in
patients
'
tears
may
be
new
candidate
molecules
involved
in
the
pathophysiology
of
aniridia
and
thus
may
be
helpful
for
development
of
novel
treatment
strategies
for
the
symptomatic
therapy
of
this
vision
threatening
condition
.
This
study
is
first
to
demonstrate
protein
composition
and
protein
expression
in
aniridic
tears
and
identifies
proteins
with
different
abundance
in
tear
fluid
from
patients
with
congenital
aniridia
vs
.
healthy
tears
.
