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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
"leukodystrophy"
symptom
achondroplasia
adrenomyeloneuropathy
alexander disease
cadasil
canavan disease
carcinoma of the gallbladder
classical phenylketonuria
coats disease
fabry disease
gm1 gangliosidosis
krabbe disease
neonatal adrenoleukodystrophy
phenylketonuria
pyruvate dehydrogenase deficiency
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated