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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
"nitric oxide toxicity in cd"
symptom
canavan disease
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