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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
"authentic human machinery"
symptom
canavan disease
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