Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Induction of apoptosis and inhibition of cell growth by tbx5 knockdown contribute to dysmorphogenesis in Zebrafish embryos.
[holt-oram syndrome]
The
tbx
5
mutation
in
human
causes
Holt-
Oram
syndrome
,
an
autosomal
dominant
condition
characterized
by
a
familial
history
of
congenital
heart
defects
and
preaxial
radial
upper
-
limb
defects
.
We
report
aberrant
apoptosis
and
dormant
cell
growth
over
head
,
heart
,
trunk
,
fin
,
and
tail
of
zebrafish
embryos
with
tbx
5
deficiency
correspond
to
the
dysmorphogenesis
of
tbx
5
morphants
.
Wild-
type
zebrafish
embryos
at
the
1
-
cell
stage
were
injected
with
4
.
3
nl
of
19
.
4
ng
of
tbx
5
morpholino
or
mismatch-tbx
5
-
MO
respectively
in
tbx
5
morphants
and
mismatched
control
group
.
Semi-quantitative
RT-PCR
was
used
to
for
expression
analysis
of
apoptosis
and
cell
cycle-related
genes
.
TUNEL
and
immunohistochemical
assay
showed
the
apoptosis
spots
within
the
local
tissues
.
Ultra
-structure
of
cardiac
myocardium
was
examined
by
transmission
electron
microscope
.
Apoptosis-related
genes
(
bad
,
bax
,
and
bcl
2
)
,
and
cell
cycle-related
genes
(
cdk
2
,
pcna
,
p
27
,
and
p
57
)
showed
remarkable
increases
in
transcriptional
level
by
RT-PCR
.
Using
a
TUNEL
and
immnuohistochemical
assay
,
apoptosis
was
observed
in
the
organs
including
the
head
,
heart
,
pectoral
fins
,
trunk
,
and
tail
of
tbx
5
knockdown
embryos
.
Under
transmission
electron
microscopic
examination
,
mitochondria
in
cardiomyocytes
became
swollen
and
the
myocardium
was
largely
disorganized
with
a
disarrayed
appearance
,
compatible
with
reduced
enhancement
of
myosin
in
the
cardiac
wall
.
The
ATP
level
was
reduced
,
and
the
ADP
/
ATP
ratio
as
an
apoptotic
index
significantly
increased
in
the
tbx
5
deficient
embryos
.
Our
study
highlighted
that
tbx
5
deficiency
evoked
apoptosis
,
distributed
on
multiple
organs
corresponding
to
dysmorphogenesis
with
the
shortage
of
promising
maturation
,
in
tbx
5
knockdown
zebrafish
embryos
.
We
hypothesized
that
mesenchymal
cell
apoptosis
associated
with
altered
TBX
5
level
may
subsequently
interfered
with
organogenesis
and
contributed
to
dysmorphogenesis
in
tbx
5
deficiency
zebrafish
embryos
.
Diseases
Validation
Diseases presenting
"cardiac myocardium"
symptom
holt-oram syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom