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Differences in adiposity in Cushing syndrome caused by PRKAR1A mutations: clues for the role of cyclic AMP signaling in obesity and diagnostic implications.
[cushing syndrome]
The
cAMP
signaling
pathway
is
implicated
in
bilateral
adrenocortical
hyperplasias
.
Bilateral
adrenocortical
hyperplasia
is
often
associated
with
ACTH-independent
Cushing
syndrome
(
CS
)
and
may
be
caused
by
mutations
in
genes
such
as
PRKAR
1
A
,
which
is
responsible
for
primary
pigmented
nodular
adrenocortical
disease
(
PPNAD
)
.
PRKAR
1
A
regulates
cAMP-dependent
protein
kinase
(
PKA
)
,
an
essential
enzyme
in
the
regulation
of
adiposity
.
Although
CS
is
invariably
associated
with
obesity
,
its
different
forms
,
including
those
associated
with
PKA
defects
,
have
not
been
compared
.
The
purpose
of
this
study
was
to
characterize
the
phenotypic
and
molecular
differences
in
periadrenal
adipose
tissue
(
PAT
)
between
patients
with
CS
with
and
without
PRKAR
1
A
mutations
.
S
amples
from
adrenalectomies
of
51
patients
were
studied
:
patients
with
CS
with
(
n
=
13
)
and
without
(
n
=
32
)
PRKAR
1
A
mutations
and
a
comparison
group
with
aldosterone-producing
adenomas
(
APAs
)
(
n
=
6
)
.
In
addition
,
clinical
data
from
a
larger
group
of
patients
with
Cushing
disease
(
n
=
89
)
and
hyperaldosteronism
(
n
=
26
)
were
used
for
comparison
.
Body
mass
index
(
BMI
)
,
abdominal
computed
tomography
scans
,
and
cortisol
data
were
collected
preoperatively
.
PAT
was
assayed
for
PKA
activity
,
cAMP
levels
,
and
PKA
subunit
expression
.
BMI
was
lower
in
adult
patients
with
CS
with
PRKAR
1
A
mutations
.
cAMP
and
active
PKA
levels
in
PAT
were
elevated
in
patients
with
CS
with
PRKAR
1
A
mutations
.
I
ncreased
PKA
signaling
in
PAT
was
associated
with
lower
BMI
in
CS
.
Differences
in
fat
distribution
may
contribute
to
phenotypic
differences
between
patients
with
CS
with
and
without
PRKAR
1
A
mutations
.
The
observed
differences
are
in
agreement
with
the
known
roles
of
cAMP
signaling
in
regulating
adiposity
,
but
this
is
the
first
time
that
germline
defects
of
PKA
are
linked
to
variable
obesity
phenotypes
in
humans
.
Diseases
Validation
Diseases presenting
"have not been compared"
symptom
cushing syndrome
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