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Hydrogen sulfide restores a normal morphological phenotype in Werner syndrome fibroblasts, attenuates oxidative damage and modulates mTOR pathway.
[werner syndrome]
Werner
syndrome
(
WS
)
protein
is
involved
in
DNA
repair
and
its
truncation
causes
Werner
syndrome
,
an
autosomal
recessive
genetic
disorder
with
a
premature
aging
phenotype
.
WRN
protein
mutation
is
currently
known
as
the
primary
cause
of
WS
.
In
cultured
WS
fibroblasts
,
we
found
an
increase
in
cytosolic
aggregates
and
hypothesized
that
the
phenotype
is
indirectly
related
to
an
excess
activation
of
the
mTOR
(
mammalian
target
of
rapamycin
)
pathway
,
leading
to
the
formation
of
protein
aggregates
in
the
cytosol
with
increasing
levels
of
oxidative
stress
.
As
we
found
that
the
expression
levels
of
the
two
main
H
2
S
producing
enzymes
,
cystathionine
β
synthase
and
cystathionine
γ
lyase
,
were
lower
in
WS
cells
compared
to
normal
,
we
investigated
the
effect
of
administration
of
H
2
S
as
NaHS
(
50
μM
)
.
NaHS
treatment
blocked
mTOR
activity
,
abrogated
protein
aggregation
and
normalized
the
phenotype
of
WS
cells
.
Similar
results
were
obtained
by
treatment
with
the
mTOR
inhibitor
rapamycin
.
This
is
the
first
report
suggesting
that
hydrogen
sulfide
administered
as
NaHS
restores
proteostasis
and
cellular
morphological
phenotype
of
WS
cells
and
hints
to
the
importance
of
transsulfuration
pathway
in
WS
.
Diseases
Validation
Diseases presenting
"first report"
symptom
achondroplasia
alexander disease
aniridia
cadasil
canavan disease
child syndrome
cohen syndrome
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
cystinuria
dedifferentiated liposarcoma
dentinogenesis imperfecta
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
esophageal squamous cell carcinoma
fabry disease
familial mediterranean fever
focal myositis
harlequin ichthyosis
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
homocystinuria without methylmalonic aciduria
inclusion body myositis
junctional epidermolysis bullosa
kabuki syndrome
kindler syndrome
krabbe disease
lamellar ichthyosis
liposarcoma
lymphangioleiomyomatosis
monosomy 21
neonatal adrenoleukodystrophy
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
pendred syndrome
pleomorphic liposarcoma
primary hyperoxaluria type 1
pyomyositis
pyruvate dehydrogenase deficiency
scrub typhus
severe combined immunodeficiency
sneddon syndrome
triple a syndrome
typhoid
waldenström macroglobulinemia
werner syndrome
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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