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Comparative proteomic profiles of the normal and aganglionic hindgut in human Hirschsprung disease.
[hirschsprung disease]
Hirschsprung
disease
(
HSCR
)
is
the
third
most
common
congenital
disorder
of
the
gastrointestinal
tract
.
This
study
aims
to
elucidate
changes
in
protein
expression
between
the
normal
and
aganglionic
hindgut
in
human
HSCR
.
The
biopsies
were
obtained
from
the
normal
and
aganglionic
hindgut
in
human
HSCR
,
and
the
comparative
proteomics
were
analyzed
by
mass
spectrometry
(
MS
)
-
based
two
-dimensional
gel
electrophoresis
(
2
DE
)
.
A
total
of
932
-
986
protein
spots
were
identified
in
each
of
the
gut
segments
,
among
which
30
spots
had
at
least
an
eightfold
difference
in
volume
(
%
)
.
Of
the
30
differentially
expressed
spots
,
15
proteins
were
identified
via
sequence
analysis
.
Among
these
15
proteins
,
eight
were
upregulated
and
seven
were
downregulated
in
the
aganglionic
group
.
The
well-represented
classes
included
biomarkers
of
enteric
ganglions
,
extracellular
matrix
proteins
,
LIM
domain
proteins
,
serum
proteins
,
and
other
pleiotropic
proteins
.
Five
proteins
were
selected
and
verified
by
western
blotting
and
real-time
PCR
,
and
the
results
were
consistent
with
the
results
of
2
DE
.
MS
-based
2
DE
can
help
to
identify
pathological
relevant
proteins
in
HSCR
;
it
defines
an
extensive
protein
catalog
of
the
normal
and
aganglionic
hindgut
and
may
constitute
the
basis
to
understand
pathophysiological
mechanisms
related
to
the
HSCR
.
Diseases
Validation
Diseases presenting
"based two-dimensional gel electrophoresis"
symptom
hirschsprung disease
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