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LAM cells biology and lymphangioleiomyomatosis.
[lymphangioleiomyomatosis]
Progressive
lung
tissue
destruction
in
lymphangioleiomyomatosis
(
LAM
)
occurs
as
a
result
of
excessive
proliferation
of
LAM
cells
caused
by
a
mutation
in
one
of
the
tuberous
sclerosis
complex
suppressor
genes
,
TSC
1
or
TSC
2
.
These
cells
show
constitutive
activation
of
the
mammalian
target
of
rapamycin
(
mTOR
)
pathway
and
many
of
the
mTOR-related
kinases
such
as
Akt
,
Erk
,
S
6
K
1
and
S
6
.
Phenotype
of
LAM
cells
differs
considerably
depending
on
their
microenvironment
.
LAM
cells
show
differences
in
morphology
,
size
and
expression
of
various
factors
depending
on
their
location
in
the
tumor
or
body
fluids
.
The
presence
of
LAM
cells
in
blood
,
urine
,
bronchoalveolar
lavage
fluid
(
BALF
)
,
and
chyle
proves
their
ability
to
metastasis
.
Antigens
of
smooth
muscle
cells
are
expressed
in
most
LAM
cells
.
Some
of
these
cells
are
immunoreactive
with
HMB-
45
antibody
,
which
is
used
for
the
immunohistochemical
diagnosis
of
LAM
.
Receptors
for
estrogen
and
progesterone
may
also
be
expressed
in
these
cells
,
which
probably
is
associated
with
the
fact
that
LAM
occurs
almost
exclusively
in
women
of
childbearing
age
.
LAM
cells
via
increased
production
of
metalloproteinases
are
involved
in
the
destruction
of
the
extracellular
matrix
,
as
well
as
the
remodeling
and
damage
of
lung
tissue
.
Sporadic
LAM
occurs
extremely
rarely
.
Therefore
a
good
experimental
model
of
this
disease
is
necessary
.
To
date
,
several
animal
and
human
cell
lines
,
which
both
genetically
and
phenotypically
resemble
LAM
cells
,
have
been
obtained
.
These
cell
lines
,
derived
from
LAM
nodule
or
an
angiomyolipoma
,
are
usually
characterized
by
a
mutation
of
the
TSC
2
gene
,
expression
of
smooth
muscle
cell
antigens
such
as
a-smooth
muscle
actin
(
aSMA
)
or
S
6
K
1
and
S
6
protein
hyperphosphorylation
.
Presently
,
there
is
no
commercially
available
cell
line
representing
a
good
model
of
LAM
.
A
better
understanding
of
LAM
cell
biology
is
necessary
for
creating
a
useful
model
in
vitro
for
further
exploration
of
both
LAM
pathomechanisms
and
more
general
mechanisms
of
carcinogenesis
.
Diseases
Validation
Diseases presenting
"a mutation in one of the tuberous sclerosis complex suppressor genes"
symptom
lymphangioleiomyomatosis
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