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Is the oxidant/antioxidant status altered in CADASIL patients?
[cadasil]
The
altered
aggregation
of
proteins
in
non-native
conformation
is
associated
with
endoplasmic
reticulum
derangements
,
mitochondrial
dysfunction
and
excessive
production
of
reactive
oxygen
species
.
Cerebral
autosomal
dominant
arteriopathy
with
subcortical
infarcts
and
leukoencephalopathy
(
CADASIL
)
is
a
rare
hereditary
systemic
vasculopathy
,
caused
by
NOTCH
3
mutations
within
the
receptor
extracellular
domain
,
that
lead
to
abnormal
accumulation
of
the
mutated
protein
in
the
vascular
wall
.
NOTCH
3
misfolding
could
cause
free
radicals
increase
also
in
CADASIL
.
Aim
of
the
study
was
to
verify
whether
CADASIL
patients
have
increased
oxidative
stress
compared
to
unrelated
healthy
controls
.
We
enrolled
15
CADASIL
patients
and
16
gender-
and
age-matched
healthy
controls
with
comparable
cardiovascular
risk
factor
.
Blood
and
plasma
reduced
and
total
aminothiols
(
homocysteine
,
cysteine
,
glutathione
,
cysteinylglycine
)
were
measured
by
HPLC
and
plasma
3
-
nitrotyrosine
by
ELISA
.
Only
plasma
reduced
cysteine
(
Pr-
Cys
)
and
blood
reduced
glutathione
(
Br-
GSH
)
concentrations
differed
between
groups
:
in
CADASIL
patients
Br-
GSH
levels
were
higher
(
p
=
0
.
019
)
and
Pr-
Cys
lower
(
p
=
0
.
010
)
than
in
controls
.
No
correlation
was
found
between
Br-
GSH
and
Pr-
Cys
either
in
CADASIL
patients
(
rho
0
.
25
,
P
=
0
.
36
)
or
in
controls
(
rho
-
0
.
15
,
P
=
0
.
44
)
.
Conversely
,
3
-
nitrotyrosine
values
were
similar
in
CADASIL
and
healthy
subjects
(
p
=
0
.
82
)
.
The
high
levels
of
antioxidant
molecules
and
low
levels
of
oxidant
mediators
found
in
our
CADASIL
population
might
either
be
expression
of
an
effective
protective
action
against
free
radical
formation
at
an
early
stage
of
clinical
symptoms
or
they
could
suggest
that
oxidative
stress
is
not
directly
involved
in
the
pathogenesis
of
CADASIL
.
Diseases
Validation
Diseases presenting
"only plasma"
symptom
cadasil
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