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Astroglial redistribution of aquaporin 4 during spongy degeneration in a Canavan disease mouse model.
[canavan disease]
Canavan
disease
is
a
spongiform
leukodystrophy
caused
by
an
autosomal
recessive
mutation
in
the
aspartoacylase
gene
.
Deficiency
of
oligodendroglial
aspartoacylase
activity
and
a
subsequent
increase
of
its
substrate
N-
acetylaspartate
are
the
etiologic
factors
for
the
disease
.
N-
acetylaspartate
acts
as
a
molecular
water
pump
.
Therefore
,
an
osmotic-hydrostatic
mechanism
is
thought
to
be
involved
in
the
development
of
the
Canavan
disease
phenotype
.
Astrocytes
express
water
transporters
and
are
critically
involved
in
regulating
and
maintaining
water
homeostasis
in
the
brain
.
We
used
the
ASPA
(
Nur
7
/
Nur
7
)
mouse
model
of
Canavan
disease
to
investigate
whether
a
disturbance
of
water
homeostasis
might
be
involved
in
the
disease
's
progression
.
Animals
showed
an
age-dependent
impairment
of
motor
performance
and
spongy
degeneration
in
various
brain
regions
,
among
the
basal
ganglia
,
brain
stem
,
and
cerebellar
white
matter
.
Astrocyte
activation
was
prominent
in
regions
which
displayed
less
tissue
damage
,
such
as
the
corpus
callosum
,
cortex
,
mesencephalon
,
and
stratum
Purkinje
of
cerebellar
lobe
IV
.
Immunohistochemistry
revealed
alterations
in
the
cellular
distribution
of
the
water
channel
aquaporin
4
in
astrocytes
of
ASPA
(
Nur
7
/
Nur
7
)
mice
.
In
control
animals
,
aquaporin
4
was
located
exclusively
in
the
astrocytic
end
feet
.
In
contrast
,
in
ASPA
(
Nur
7
/
Nur
7
)
mice
,
aquaporin
4
was
located
throughout
the
cytoplasm
.
These
results
indicate
that
astroglial
regulation
of
water
homeostasis
might
be
involved
in
the
partial
prevention
of
spongy
degeneration
.
These
observations
highlight
aquaporin
4
as
a
potential
therapeutic
target
for
Canavan
disease
.
Diseases
Validation
Diseases presenting
"motor performance"
symptom
canavan disease
classical phenylketonuria
congenital diaphragmatic hernia
gm1 gangliosidosis
pyomyositis
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