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Genome-wide gene expression profiling and mutation analysis of Saudi patients with Canavan disease.
[canavan disease]
Canavan
disease
,
caused
by
a
deficiency
of
aspartoacylase
,
is
one
of
the
most
common
cerebral
degenerative
diseases
of
infancy
.
The
aims
of
this
study
were
to
identify
the
mutations
associated
with
Canavan
disease
in
Saudi
Arabia
and
to
identify
differentially
expressed
genes
likely
to
contribute
to
the
development
of
this
disease
.
Polymerase
chain
reaction
,
long
polymerase
chain
reaction
,
multiplex
ligation-dependent
probe
amplification
,
sequencing
,
array
comparative
genomic
hybridization
(
aCGH
)
,
and
global
gene
expression
profiling
were
used
to
determine
putative
mutations
and
likely
gene
signatures
in
cultured
fibroblasts
of
patients
from
Saudi
Arabia
.
One
novel
and
one
known
large
deletion
and
two
previously
known
mutations
(
IVS
4
+
1
G
>
T
and
G
27
R
)
were
identified
.
Compared
with
controls
,
1440
genes
were
significantly
modulated
in
Canavan
patients
(
absolute
fold
change
[
FC
]
>
or
=
4
)
.
Genome-
wide
gene
expression
profiling
results
indicated
that
some
genes
,
involved
in
apoptosis
,
muscle
contraction
and
development
,
mitochondrial
oxidation
,
inflammation
and
glutamate
,
and
aspartate
metabolism
,
were
significantly
dysregulated
.
Our
findings
indicate
that
the
presence
of
muscle
weakness
and
hypotonia
in
patients
may
be
associated
with
the
dysregulated
gene
activities
of
cell
motility
,
muscle
contraction
and
development
,
actin
binding
,
and
cytoskeletal-related
activities
.
Overall
,
these
observations
are
in
accordance
with
previous
studies
performed
in
a
knockout
mouse
model
.
Diseases
Validation
Diseases presenting
"a deficiency of aspartoacylase"
symptom
canavan disease
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