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Changes in differential gene expression in fibroblast cells from patients with triple A syndrome under oxidative stress.
[triple a syndrome]
The
triple
A
syndrome
is
a
rare
autosomal
recessive
disease
caused
by
mutations
in
the
AAAS
gene
,
which
encodes
the
nucleoporin
ALADIN
.
Recently
it
was
shown
that
ALADIN
plays
a
role
in
the
import
of
different
factors
into
the
nucleus
,
which
prevent
the
cell
from
DNA
damage
and
consecutive
cell
death
under
oxidative
stress
.
In
order
to
investigate
the
changes
in
differential
gene
expression
in
ALADIN-
deficient
or
mutated
cells
under
oxidative
stress
we
used
fibroblast
cell
cultures
of
triple
A
syndrome
patients
and
compared
these
to
controls
.
Analysis
of
84
genes
,
which
are
associated
with
oxidative
stress
and
antioxidant
defense
,
showed
that
7
genes
were
significantly
and
differentially
regulated
,
namely
BCL
2
/
adenovirus
E
1
B
19
kD-interacting
protein
3
(
BNIP
3
)
,
24
-
dehydrocholesterol
reduc-tase
(
DHCR
24
)
,
dual
specificity
phosphatase
1
(
DUSP
1
)
,
forkhead
box
M
1
(
FOXM
1
)
,
nudix-
type
motif
1
(
NUDT
1
)
,
prostaglandin-endoperoxide
synthase
2
(
PTGS
2
)
,
and
scavenger
receptor
class
A
,
member
3
(
SCARA
3
)
.
Whereas
in
control
cells
the
expression
of
DHCR
24
,
FOXM
1
,
NUDT
1
,
and
SCARA
3
was
decreased
after
paraquat
treatment
,
the
expression
did
not
change
significantly
in
patient
cells
.
However
,
the
basal
expression
of
SCARA
3
and
BNIP
3
was
significantly
higher
in
patient
cells
than
in
controls
whereas
PTGS
2
was
less
expressed
.
Furthermore
,
after
paraquat
treatment
the
expression
of
BNIP
3
,
DUSP
1
,
and
PTGS
2
was
significantly
increased
in
control
cells
while
in
patient
cells
the
increase
of
DUSP
1
and
PTGS
2
expression
was
significantly
reduced
.
With
this
work
we
confirm
that
cells
of
triple
A
patients
show
an
altered
induction
or
downregulation
of
genes
associated
with
oxidative
stress
and
antioxidant
defense
.
Diseases
Validation
Diseases presenting
"antioxidant defense"
symptom
triple a syndrome
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