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Altered goblet cell differentiation and surface mucus properties in Hirschsprung disease.
[hirschsprung disease]
Hirschsprung
disease
-associated
enterocolitis
(
HAEC
)
leads
to
significant
mortality
and
morbidity
,
but
its
pathogenesis
remains
unknown
.
Changes
in
the
colonic
epithelium
related
to
goblet
cells
and
the
luminal
mucus
layer
have
been
postulated
to
play
a
key
role
.
Here
we
show
that
the
colonic
epithelium
of
both
aganglionic
and
ganglionic
segments
are
altered
in
patients
and
in
mice
with
Hirschsprung
disease
(
HSCR
)
.
Structurally
,
goblet
cells
were
altered
with
increased
goblet
cell
number
and
reduced
intracellular
mucins
in
the
distal
colon
of
biopsies
from
patients
with
HSCR
.
Endothelin
receptor
B
(
Ednrb
)
mutant
mice
showed
increased
goblet
cell
number
and
size
and
increased
cell
proliferation
compared
to
wild-
type
mice
in
aganglionic
segments
,
and
reduced
goblet
cell
size
and
number
in
ganglionic
segments
.
Functionally
,
compared
to
littermates
,
Ednrb-
/
-
mice
showed
increased
transepithelial
resistance
,
reduced
stool
water
content
and
similar
chloride
secretion
in
the
distal
colon
.
Transcript
levels
of
goblet
cell
differentiation
factors
SPDEF
and
Math
1
were
increased
in
the
distal
colon
of
Ednrb-
/
-
mice
.
Both
distal
colon
from
Ednrb
mice
and
biopsies
from
HSCR
patients
showed
reduced
Muc
4
expression
as
compared
to
controls
,
but
similar
expression
of
Muc
2
.
Particle
tracking
studies
showed
that
mucus
from
Ednrb-
/
-
mice
provided
a
more
significant
barrier
to
diffusion
of
200
nm
nanoparticles
as
compared
to
wild-
type
mice
.
These
results
suggest
that
aganglionosis
is
associated
with
increased
goblet
cell
proliferation
and
differentiation
and
subsequent
altered
surface
mucus
properties
,
prior
to
the
development
of
inflammation
in
the
distal
colon
epithelium
.
Restoration
of
normal
goblet
cell
function
and
mucus
layer
properties
in
the
colonic
epithelium
may
represent
a
therapeutic
strategy
for
prevention
of
HAEC
.
Diseases
Validation
Diseases presenting
"increased goblet cell number and reduced intracellular mucins in the distal colon"
symptom
hirschsprung disease
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