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Aspartoacylase deficiency affects early postnatal development of oligodendrocytes and myelination.
[canavan disease]
Canavan
disease
(
CD
)
is
a
neurodegenerative
disease
,
caused
by
a
deficiency
in
the
enzyme
aspartoacylase
(
ASPA
)
.
This
enzyme
has
been
localized
to
oligodendrocytes
;
however
,
it
is
still
undefined
how
ASPA
deficiency
affects
oligodendrocyte
development
.
In
normal
mice
the
pattern
of
ASPA
expression
coincides
with
oligodendrocyte
maturation
.
Therefore
,
postnatal
oligodendrocyte
maturation
was
analyzed
in
ASPA
-
deficient
mice
(
CD
mice
)
.
Early
in
development
,
CD
mice
brains
showed
decreased
expression
of
neural
cell
markers
that
was
later
compensated
.
In
addition
,
the
levels
of
myelin
proteins
were
decreased
along
with
abnormal
myelination
in
CD
mice
compared
to
wild-
type
(
WT
)
.
These
defects
were
associated
with
increased
global
levels
of
acetylated
histone
H
3
,
decreased
chromatin
compaction
and
increased
GFAP
protein
,
a
marker
for
astrogliosis
.
Together
,
these
findings
strongly
suggest
that
,
early
in
postnatal
development
,
ASPA
deficiency
affects
oligodendrocyte
maturation
and
myelination
.
Diseases
Validation
Diseases presenting
"postnatal oligodendrocyte maturation"
symptom
canavan disease
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