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Oxidative stress and antioxidant response in fibroblasts from Werner and Atypical Werner Syndromes.
[werner syndrome]
Werner
Syndrome
(
WS
,
ICD-
10
E
34
.
8
,
ORPHA
902
)
and
Atypical
Werner
Syndrome
(
AWS
,
ICD-
10
E
34
.
8
,
ORPHA
79474
)
are
very
rare
inherited
syndromes
characterized
by
premature
aging
.
While
approximately
90
%
of
WS
individuals
have
any
of
a
range
of
mutations
in
theWRN
gene
,
there
exists
a
clinical
subgroup
in
which
the
mutation
occurs
in
the
LMNA
/
C
gene
in
heterozygosity
.
Although
both
syndromes
exhibit
an
age-related
pleiotropic
phenotype
,
AWS
manifests
the
onset
of
the
disease
during
childhood
,
while
major
symptoms
in
WS
appear
between
the
ages
of
20
and
30
.
To
study
the
molecular
mechanisms
of
progeroid
diseases
provides
a
useful
insight
into
the
normal
aging
process
.
Main
changes
found
were
the
decrease
in
Cu
/
Zn
and
Mn
SOD
activities
in
the
three
cell
lines
.
In
AWS
,
both
mRNA
SOD
and
protein
levels
were
also
decreased
.
Catalase
and
glutathione
peroxidases
decrease
,
mainly
in
AWS
.
Glutaredoxin
(
Grx
)
and
thioredoxin
(
Trx
)
protein
expression
was
lower
in
the
three
progeroid
cell
lines
.
Grx
and
Trx
were
subjected
to
post-transcriptional
regulation
,
because
protein
expression
was
reduced
although
mRNA
levels
were
not
greatly
affected
in
WS
.
Low
antioxidant
defense
and
oxidative
stress
occur
simultaneously
in
these
rare
genetic
instability
disorders
at
the
onset
of
progeroid
disease
.
Diseases
Validation
Diseases presenting
"premature aging"
symptom
alexander disease
cadasil
cushing syndrome
kindler syndrome
werner syndrome
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