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Alterations in smooth muscle contractile and cytoskeleton proteins and interstitial cells of Cajal in megacystis microcolon intestinal hypoperistalsis syndrome.
[megacystis-microcolon-intestinal hypoperistalsis syndrome]
Megacystis
microcolon
intestinal
hypoperistalsis
syndrome
(
MMIHS
)
is
characterized
by
decreased
or
absent
peristalsis
.
Gastrointestinal
motility
depends
on
the
enteric
nervous
system
,
smooth
muscle
cells
(
SMCs
)
,
and
the
interstitial
cells
of
Cajal
(
ICCs
)
.
Contractile
and
cytoskeleton
proteinase
are
important
structural
and
functional
components
of
SMCs
.
The
aim
of
study
was
to
examine
the
expression
of
contractile
and
cytoskeleton
proteins
in
SMCs
and
distribution
of
ICCs
in
MMIHS
bowel
.
Full-thickness
bowel
specimens
were
obtained
from
4
infants
with
MMIHS
and
4
controls
.
Specimens
were
processed
as
whole-
mount
preparations
and
frozen
and
paraffin
sections
.
Combined
staining
of
NADPH-d
histochemistry
/
c-kit
immunohistochemistry
,
single
and
double
immunohistochemistry
using
alpha-smooth
muscle
actin
(
alpha-
SMA
)
,
calponin
(
CALP
)
,
caldesmon
(
CALD
)
,
desmin
(
DES
)
,
protein
gene
product
9
.
5
(
PGP
9
.
5
)
and
c-kit
antibodies
were
performed
and
examined
using
light
and
confocal
scanning
microscopy
.
alpha-
SMA
,
CALP
,
CALD
,
and
DES
immunoreactivity
were
reduced
markedly
in
MMIHS
bowel
compared
with
controls
.
Combined
NADPH
/
c-kit
staining
showed
dense
network
of
ICCs
around
myenteric
plexus
in
MMIHS
bowel
.
In
contrast
,
the
intramuscular
ICCs
either
were
absent
or
reduced
in
MMIHS
bowel
.
Marked
reduction
of
contractile
and
cytoskeleton
proteins
in
SMCs
combined
with
reduced
expression
of
intramuscular
ICCs
in
the
gut
may
be
responsible
for
the
motility
dysfunction
in
MMIHS
.
Diseases
Validation
Diseases presenting
"marked reduction"
symptom
coats disease
gm1 gangliosidosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
severe combined immunodeficiency
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
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