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Differential expressions of BMPR1α, ACTN4α and FABP7 in Hirschsprung disease.
[hirschsprung disease]
Hirschsprung
disease
(
HSCR
)
is
characterized
by
the
absence
of
intramural
ganglion
cells
in
the
nerve
plexuses
of
the
distal
gut
.
Recent
studies
have
shown
that
the
bone
morphogenetic
protein
receptor-
type
IA
(
BMPR
1
α
)
,
actinin-alpha
4
(
ACTN
4
α
)
and
fatty
acid
binding
protein
7
(
FABP
7
)
play
important
roles
in
the
differentiation
and
development
of
neurons
.
The
aganglionic
(
stenotic
)
and
the
ganglionic
(
normal
)
colon
segment
tissues
of
60
HSCR
patients
were
collected
to
investigate
the
expression
pattern
of
BMPR
1
α
,
ACTININ-
4
α
and
FABP
7
using
RT-PCR
,
quantitative
real-time
RT-PCR
(
qRT-PCR
)
and
immunohistochemical
staining
.
The
mRNA
and
protein
expressions
of
BMPR
1
α
and
ACTN
4
α
were
higher
in
the
stenotic
colon
segment
tissue
than
those
in
the
normal
colon
segment
tissue
.
However
,
the
mRNA
and
protein
expressions
of
FABP
7
were
lower
in
the
stenotic
colon
segment
tissue
than
those
in
the
normal
colon
segment
tissue
.
The
study
in
HSCR
patients
,
findings
in
mRNA
and
protein
alterations
to
expecting
provide
more
information
to
in
order
to
find
some
clue
for
the
pathomechanism
of
HSCR
disease
.
Diseases
Validation
Diseases presenting
"absence of intramural ganglion cells in the nerve plexuses of the distal gut"
symptom
hirschsprung disease
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