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Glutathione imbalance in patients with X-linked adrenoleukodystrophy.
[x-linked adrenoleukodystrophy]
X-
linked
adrenoleukodystrophy
(
X-
ALD
)
is
a
genetic
disorder
of
X-
linked
inheritance
caused
by
a
mutation
in
the
ABCD
1
gene
which
determines
an
accumulation
of
long
-chain
fatty
acids
in
plasma
and
tissues
.
Recent
evidence
shows
that
oxidative
stress
may
be
a
hallmark
in
the
pathogenesis
of
X-
ALD
and
glutathione
plays
an
important
role
in
the
defense
against
free
radicals
.
In
this
study
we
have
analyzed
glutathione
homeostasis
in
lymphocytes
of
14
patients
with
X-
ALD
and
evaluated
the
balance
between
oxidized
and
reduced
forms
of
glutathione
,
in
order
to
define
the
role
of
this
crucial
redox
marker
in
this
condition
.
Lymphocytes
,
plasma
and
erythrocytes
were
obtained
from
the
whole
blood
of
14
subjects
with
X-
ALD
and
in
30
healthy
subjects
.
Total
,
reduced
and
protein-bound
glutathione
levels
were
measured
in
lymphocytes
by
HPLC
analysis
.
Erythrocyte
free
glutathione
and
antioxidant
enzyme
activities
,
plasma
thiols
and
carbonyl
content
were
determined
by
spectrophotometric
assays
.
A
significant
decrease
of
total
and
reduced
glutathione
was
found
in
lymphocytes
of
patients
,
associated
to
high
levels
of
all
oxidized
glutathione
forms
.
A
decline
of
free
glutathione
was
particularly
significant
in
erythrocytes
.
The
increased
oxidative
stress
in
X-
ALD
was
additionally
confirmed
by
the
decrease
of
plasma
thiols
and
the
high
level
of
carbonyls
.
O
ur
results
strongly
support
a
role
for
oxidative
stress
in
the
pathophysiology
of
X-
ALD
and
strengthen
the
importance
of
the
balance
among
glutathione
forms
as
a
hallmark
and
a
potential
biomarker
of
the
disease
.
Diseases
Validation
Diseases presenting
"tissues"
symptom
adrenomyeloneuropathy
cushing syndrome
neonatal adrenoleukodystrophy
oculocutaneous albinism
x-linked adrenoleukodystrophy
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