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Myelin lipid abnormalities in the aspartoacylase-deficient tremor rat.
[canavan disease]
The
high
concentration
of
N-
acetylaspartate
(
NAA
)
in
neurons
of
the
central
nervous
system
and
its
growing
clinical
use
as
an
indicator
of
neuronal
viability
has
intensified
interest
in
the
biological
function
of
this
amino
acid
derivative
.
The
biomedical
relevance
of
such
inquiries
is
highlighted
by
the
myelin-associated
pathology
of
Canavan
disease
,
an
inherited
childhood
disorder
resulting
from
mutation
of
aspartoacylase
(
ASPA
)
,
the
NAA-hydrolyzing
enzyme
.
This
enzyme
is
known
to
be
localized
in
oligodendrocytes
with
bimodal
distribution
in
cytosol
and
the
myelin
sheath
,
and
to
produce
acetyl
groups
utilized
in
myelin
lipid
synthesis
.
Loss
of
this
acetyl
source
in
Canavan
disease
and
rodent
models
such
as
the
tremor
rat
are
thought
to
account
for
the
observed
myelin
deficit
.
This
study
was
undertaken
to
further
define
and
quantify
the
specific
lipid
abnormalities
that
occur
as
a
result
of
ASPA
deficit
in
the
tremor
rat
.
Employing
mass
spectrometry
together
with
high
performance
thin
-layer
chromatography
,
we
found
that
myelin
from
28
-
day
-old
animals
showed
major
reduction
in
cerebrosides
(
CB
)
and
sulfatides
(
Sulf
)
with
unsubstituted
fatty
acids
,
and
equal
if
not
greater
changes
in
myelin
from
7
-
month
-old
tremors
.
Cerebrosides
with
2
-
hydroxyfatty
acids
showed
little
if
any
change
at
either
age
;
Sulf
with
2
-
hydroxyfatty
acids
showed
no
significant
change
at
28
days
,
but
surprisingly
a
major
increase
at
7
months
.
Two
species
of
phosphatidylcholine
,
32
:
0
and
34
:
1
,
also
showed
significant
increase
,
but
only
at
28
days
.
One
form
of
phosphatidylethanolamine
,
PE
36
:
1
,
was
reduced
a
modest
amount
at
both
ages
,
whereas
the
plasmalogen
form
did
not
change
.
The
dysmyelination
that
results
from
inactivation
of
ASPA
is
thus
characterized
by
selective
decreases
as
well
as
some
increases
in
specific
lipids
.
Diseases
Validation
Diseases presenting
"high performance"
symptom
alpha-thalassemia
benign recurrent intrahepatic cholestasis
canavan disease
cystinuria
familial hypocalciuric hypercalcemia
neonatal adrenoleukodystrophy
pyruvate dehydrogenase deficiency
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