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Intracellular ROS level is increased in fibroblasts of triple A syndrome patients.
[triple a syndrome]
Triple
A
syndrome
is
named
after
the
main
symptoms
of
alacrima
,
achalasia
,
and
adrenal
insufficiency
but
also
presents
with
a
variety
of
neurological
impairments
.
To
investigate
the
causes
of
progressive
neurodegeneration
,
we
examined
the
oxidative
status
of
fibroblast
cultures
derived
from
triple
A
syndrome
patients
in
comparison
to
control
cells
.
Patient
cells
showed
a
2
.
1
-
fold
increased
basal
level
of
reactive
oxygen
species
(
ROS
)
and
a
massive
boost
after
induction
of
artificial
oxidative
stress
by
paraquat
.
We
examined
the
expression
of
the
ROS
-detoxifying
enzymes
superoxide
dismutase
1
and
2
(
SOD
1
,
SOD
2
)
,
catalase
,
and
glutathione
reductase
.
The
basal
expression
of
SOD
1
was
significantly
(
1
.
3
-
fold
)
increased
,
and
the
expression
of
catalase
was
0
.
7
-
fold
decreased
in
patient
cells
after
induction
of
artificial
oxidative
stress
.
We
show
that
the
mitochondrial
network
is
1
.
8
-
fold
more
extensive
in
patient
cells
compared
to
control
fibroblasts
although
the
maximal
ATP
synthesis
was
unchanged
.
Despite
having
the
same
energy
potential
as
the
controls
,
the
patient
cells
showed
a
1
.
4
-
fold
increase
in
doubling
time
.
We
conclude
that
fibroblasts
of
triple
A
patients
have
a
higher
basal
ROS
level
and
an
increased
response
to
artificially
induced
oxidative
stress
and
undergo
"
stress-induced
premature
senescence
"
.
The
increased
sensitivity
to
oxidative
stress
may
be
a
major
mechanism
for
the
neurodegeneration
in
triple
A
syndrome
.
Diseases
Validation
Diseases presenting
"neurodegeneration"
symptom
adrenomyeloneuropathy
alexander disease
cadasil
canavan disease
classical phenylketonuria
fabry disease
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
krabbe disease
neonatal adrenoleukodystrophy
neuralgic amyotrophy
oculocutaneous albinism
pyruvate dehydrogenase deficiency
triple a syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated