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Extensive aspartoacylase expression in the rat central nervous system.
[canavan disease]
Aspartoacylase
(
ASPA
)
catalyzes
deacetylation
of
N-
acetylaspartate
(
NAA
)
to
generate
acetate
and
aspartate
.
Mutations
in
the
gene
for
ASPA
lead
to
reduced
acetate
availability
in
the
CNS
during
development
resulting
in
the
fatal
leukodystrophy
Canavan
disease
.
Highly
specific
polyclonal
antibodies
to
ASPA
were
used
to
examine
CNS
expression
in
adult
rats
.
In
white
matter
,
ASPA
expression
was
associated
with
oligodendrocyte
cell
bodies
,
nuclei
,
and
some
processes
,
but
showed
a
dissimilar
distribution
pattern
to
myelin
basic
protein
and
oligodendrocyte
specific
protein
.
Microglia
expressed
ASPA
in
all
CNS
regions
examined
,
as
did
epiplexus
cells
of
the
choroid
plexus
.
Pial
and
ependymal
cells
and
some
endothelial
cells
were
ASPA
positive
,
as
were
unidentified
cellular
nuclei
throughout
the
CNS
.
Astrocytes
did
not
express
ASPA
in
their
cytoplasm
.
In
some
fiber
pathways
and
nerves
,
particularly
in
the
brainstem
and
spinal
cord
,
the
axoplasm
of
many
neuronal
fibers
expressed
ASPA
,
as
did
some
neurons
.
Acetyl
coenzyme
A
synthase
immunoreactivity
was
also
observed
in
the
axoplasm
of
many
of
the
same
fiber
pathways
and
nerves
.
All
ASPA
-immunoreactive
elements
were
unstained
in
brain
sections
from
tremor
rats
,
an
ASPA
-null
mutant
.
The
strong
expression
of
ASPA
in
oligodendrocyte
cell
bodies
is
consistent
with
a
lipogenic
role
in
myelination
.
Strong
ASPA
expression
in
cell
nuclei
is
consistent
with
a
role
for
NAA-derived
acetate
in
nuclear
acetylation
reactions
,
including
histone
acetylation
.
Expression
of
ASPA
in
microglia
may
indicate
a
role
in
lipid
synthesis
in
these
cells
,
whereas
expression
in
axons
suggests
that
some
neurons
can
both
synthesize
and
catabolize
NAA
.
Diseases
Validation
Diseases presenting
"spinal cord"
symptom
achondroplasia
adrenomyeloneuropathy
alexander disease
canavan disease
child syndrome
congenital toxoplasmosis
cystinuria
erdheim-chester disease
esophageal carcinoma
gm1 gangliosidosis
homocystinuria without methylmalonic aciduria
krabbe disease
locked-in syndrome
malignant atrophic papulosis
neonatal adrenoleukodystrophy
pleomorphic liposarcoma
proteus syndrome
thoracic outlet syndrome
triple a syndrome
von hippel-lindau disease
x-linked adrenoleukodystrophy
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