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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
.
