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Upregulation of N-acetylaspartic acid resulting nitric oxide toxicity induces aspartoacylase mutations and protein interaction to cause pathophysiology seen in Canavan disease.
[canavan disease]
Aspartoacylase
(
ASPA
)
converts
N-
acetylaspartic
acid
into
aspartate
and
acetate
.
In
Canavan
disease
(
CD
)
,
N-
acetylaspartic
acid
(
NAA
)
is
found
to
be
increased
and
over
65
mutations
including
IVS
4
+
1
G
→
T
,
deletion
of
introns
and
exons
have
been
reported
in
the
ASPA
gene
.
These
changes
lead
to
severe
form
or
mild
form
of
CD
.
The
present
study
was
aimed
to
understand
mechanism
in
the
cause
of
mutations
in
ASPA
and
pathophysiology
seen
in
patients
with
CD
.
We
have
reported
that
elevated
levels
of
NAA
induce
inducible
nitric
oxide
(
iNOS
)
to
produce
nitric
oxide
toxicity
in
CD
.
Nitric
oxide
toxicity
has
been
shown
to
induce
several
mutations
including
base
change
G
→
T
and
deletion
and
enhances
protein
interaction
in
several
genes
.
Therefore
we
hypothesize
that
upregulation
of
NAA
stimulates
NOS
and
the
resulting
nitric
oxide
toxicity
induces
ASPA
mutations
and
protein
interaction
to
result
pathophysiological
abnormalities
seen
in
patients
with
CD
.
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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