Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Is mTOR inhibition a systemic treatment for tuberous sclerosis?
[lymphangioleiomyomatosis]
Tuberous
sclerosis
complex
(
TSC
)
is
a
genetic
multisystem
disorder
characterized
by
the
development
of
hamartomas
in
several
organs
.
Mutations
in
the
TSC
1
and
TSC
2
tumor
suppressor
genes
determin
overactivation
of
the
mammalian
target
of
rapamycin
(
mTOR
)
signaling
pathway
and
subsequent
abnormalities
in
numerous
cell
processes
.
As
a
result
,
mTOR
inhibitors
such
as
sirolimus
and
everolimus
have
the
potential
to
provide
targeted
therapy
for
TSC
patients
.
Everolimus
has
been
recently
approved
as
a
pharmacotherapy
option
for
TSC
patients
with
subependymal
giant
-cell
astrocytomas
(
SEGAs
)
or
renal
angiomyolipomas
(
AMLs
)
.
However
,
clinical
evidence
suggests
that
this
treatment
can
benefit
other
TSC-associated
disease
manifestations
,
such
as
skin
manifestations
,
pulmonary
lymphangioleiomyomatosis
,
cardiac
rhabdomyomas
,
and
epilepsy
.
Therefore
,
the
positive
effects
that
mTOR
inhibition
have
on
a
wide
variety
of
TSC
disease
manifestations
make
this
a
potential
systemic
treatment
option
for
this
genetic
multifaceted
disorder
.