Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Statin treatment rescues FGFR3 skeletal dysplasia phenotypes.
[achondroplasia]
Gain-of-function
mutations
in
the
fibroblast
growth
factor
receptor
3
gene
(
FGFR
3
)
result
in
skeletal
dysplasias
,
such
as
thanatophoric
dysplasia
and
achondroplasia
(
ACH
)
.
The
lack
of
disease
models
using
human
cells
has
hampered
the
identification
of
a
clinically
effective
treatment
for
these
diseases
.
Here
we
show
that
statin
treatment
can
rescue
patient-
specific
induced
pluripotent
stem
cell
(
iPSC
)
models
and
a
mouse
model
of
FGFR
3
skeletal
dysplasia
.
We
converted
fibroblasts
from
thanatophoric
dysplasia
type
I
(
TD
1
)
and
ACH
patients
into
iPSCs
.
The
chondrogenic
differentiation
of
TD
1
iPSCs
and
ACH
iPSCs
resulted
in
the
formation
of
degraded
cartilage
.
We
found
that
statins
could
correct
the
degraded
cartilage
in
both
chondrogenically
differentiated
TD
1
and
ACH
iPSCs
.
Treatment
of
ACH
model
mice
with
statin
led
to
a
significant
recovery
of
bone
growth
.
These
results
suggest
that
statins
could
represent
a
medical
treatment
for
infants
and
children
with
TD
1
and
ACH
.
