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Expression of aspartoacylase (ASPA) and Canavan disease.
[canavan disease]
Canavan
disease
(
CD
)
is
a
neurodegenerative
disorder
usually
presenting
in
the
first
six
months
of
life
.
CD
patients
can
be
identified
via
elevated
levels
of
N-
acetyl-l-aspartate
in
the
pattern
of
urinary
organic
acids
assessed
by
gas
chromatography-mass
spectrometry
.
They
are
characterized
by
deficiency
of
aspartoacylase
(
aminoacylase
2
;
ASPA
)
due
to
mutations
in
the
ASPA
gene
.
Information
on
the
molecular
basis
of
CD
is
rather
sparse
.
A
lack
of
expression
studies
of
ASPA
mutant
proteins
in
appropriate
expression
systems
has
prompted
this
investigation
.
Studies
with
overexpressed
ASPA
mutant
proteins
were
carried
out
in
the
HEK
293
cell
line
,
which
provides
the
authentic
human
machinery
for
posttranslational
modifications
.
All
ASPA
mutants
tested
(
ASPA
Arg
168
H
is
,
ASPA
Pro
181
Thr
,
ASPA
Tyr
288
Cys
,
ASPA
Phe
295
S
er
,
and
ASPA
Ala
305
G
lu
)
showed
loss
of
ASPA
activity
,
which
can
be
explained
by
the
intramolecular
effects
of
the
mutations
in
the
enzyme
.
The
mutation
p
.
Phe
295
Ser
even
leads
to
absent
ASPA
mRNA
expression
,
as
revealed
by
quantitative
real-time
PCR
.
Using
this
approach
,
ASPA
gene
expression
analysis
yielded
high
levels
of
human
ASPA
gene
expression
not
only
in
brain
and
kidney
,
but
also
in
lung
and
liver
.
More
information
of
ASPA
localization
in
human
organs
and
detailed
characterization
of
mutations
leading
to
a
deficiency
of
ASPA
can
contribute
to
a
better
understanding
of
this
inborn
error
of
metabolism
.
Diseases
Validation
Diseases presenting
"elevated levels"
symptom
22q11.2 deletion syndrome
adrenal incidentaloma
adrenomyeloneuropathy
alexander disease
aniridia
cadasil
canavan disease
congenital adrenal hyperplasia
epidermolysis bullosa simplex
erythropoietic protoporphyria
esophageal carcinoma
fabry disease
familial hypocalciuric hypercalcemia
hereditary cerebral hemorrhage with amyloidosis
inclusion body myositis
kabuki syndrome
omenn syndrome
phenylketonuria
primary effusion lymphoma
pyruvate dehydrogenase deficiency
scrub typhus
sneddon syndrome
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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