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TSC2 epigenetic defect in primary LAM cells. Evidence of an anchorage-independent survival.
[lymphangioleiomyomatosis]
Tuberous
sclerosis
complex
(
TSC
)
is
caused
by
mutations
in
TSC
1
or
TSC
2
genes
.
Lymphangioleiomyomatosis
(
LAM
)
can
be
sporadic
or
associated
with
TSC
and
is
characterized
by
widespread
pulmonary
proliferation
of
abnormal
α-smooth
muscle
(
ASM
)
-
like
cells
.
We
investigated
the
features
of
ASM
cells
isolated
from
chylous
thorax
of
a
patient
affected
by
LAM
associated
with
TSC
,
named
LAM
/
TSC
cells
,
bearing
a
germline
TSC
2
mutation
and
an
epigenetic
defect
causing
the
absence
of
tuberin
.
Proliferation
of
LAM
/
TSC
cells
is
epidermal
growth
factor
(
EGF
)
-
dependent
and
blockade
of
EGF
receptor
causes
cell
death
as
we
previously
showed
in
cells
lacking
tuberin
.
LAM
/
TSC
cells
spontaneously
detach
probably
for
the
inactivation
of
the
focal
adhesion
kinase
(
FAK
)
/
Akt
/
mTOR
pathway
and
display
the
ability
to
survive
independently
from
adhesion
.
Non-adherent
LAM
/
TSC
cells
show
an
extremely
low
proliferation
rate
consistent
with
tumour
stem-cell
characteristics
.
Moreover
,
LAM
/
TSC
cells
bear
characteristics
of
stemness
and
secrete
high
amount
of
interleukin
(
IL
)
-
6
and
IL
-
8
.
Anti-
EGF
receptor
antibodies
and
rapamycin
affect
proliferation
and
viability
of
non-adherent
cells
.
In
conclusion
,
the
understanding
of
LAM
/
TSC
cell
features
is
important
in
the
assessment
of
cell
invasiveness
in
LAM
and
TSC
and
should
provide
a
useful
model
to
test
therapeutic
approaches
aimed
at
controlling
their
migratory
ability
.
Diseases
Validation
Diseases presenting
"growth factor"
symptom
22q11.2 deletion syndrome
achondroplasia
adrenal incidentaloma
aniridia
cadasil
cholangiocarcinoma
coats disease
dedifferentiated liposarcoma
dentin dysplasia
dentinogenesis imperfecta
dystrophic epidermolysis bullosa
esophageal carcinoma
esophageal squamous cell carcinoma
hodgkin lymphoma, classical
holt-oram syndrome
inclusion body myositis
kallmann syndrome
krabbe disease
liposarcoma
lymphangioleiomyomatosis
oculocutaneous albinism
oral submucous fibrosis
pleomorphic liposarcoma
primary effusion lymphoma
primary hyperoxaluria type 1
severe combined immunodeficiency
systemic capillary leak syndrome
von hippel-lindau disease
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
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