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Myosin IXa regulates epithelial differentiation and its deficiency results in hydrocephalus.
[hydrocephalus with stenosis of the aqueduct of sylvius]
The
ependymal
multiciliated
epithelium
in
the
brain
restricts
the
cerebrospinal
fluid
to
the
cerebral
ventricles
and
regulates
its
flow
.
We
report
here
that
mice
deficient
for
myosin
IXa
(
Myo
9
a
)
,
an
actin-dependent
motor
molecule
with
a
Rho
GTPase-activating
(
GAP
)
domain
,
develop
severe
hydrocephalus
with
stenosis
and
closure
of
the
ventral
caudal
3rd
ventricle
and
the
aqueduct
.
Myo
9
a
is
expressed
in
maturing
ependymal
epithelial
cells
,
and
its
absence
leads
to
impaired
maturation
of
ependymal
cells
.
The
Myo
9
a
deficiency
further
resulted
in
a
distorted
ependyma
due
to
irregular
epithelial
cell
morphology
and
altered
organization
of
intercellular
junctions
.
Ependymal
cells
occasionally
delaminated
,
forming
multilayered
structures
that
bridged
the
CSF-filled
ventricular
space
.
Hydrocephalus
formation
could
be
significantly
attenuated
by
the
inhibition
of
the
Rho-effector
Rho-kinase
(
ROCK
)
.
Administration
of
ROCK-inhibitor
restored
maturation
of
ependymal
cells
,
but
not
the
morphological
distortions
of
the
ependyma
.
Similarly
,
down-regulation
of
Myo
9
a
by
siRNA
in
Caco-
2
adenocarcinoma
cells
increased
Rho-signaling
and
induced
alterations
in
differentiation
,
cell
morphology
,
junction
assembly
,
junctional
signaling
,
and
gene
expression
.
Our
results
demonstrate
that
Myo
9
a
is
a
critical
regulator
of
Rho-dependent
and
-
independent
signaling
mechanisms
that
guide
epithelial
differentiation
.
Moreover
,
Rho-kinases
may
represent
a
new
target
for
therapeutic
intervention
in
some
forms
of
hydrocephalus
.
Diseases
Validation
Diseases presenting
"irregular epithelial cell morphology"
symptom
hydrocephalus with stenosis of the aqueduct of sylvius
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