Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Phosphodiesterases and adrenal cushing in mice and humans.
[cushing syndrome]
The
majority
of
benign
adrenal
cortex
lesions
leading
to
Cushing
syndrome
are
associated
to
one
or
another
abnormality
of
the
cAMP
/
cGMP-phosphodiesterase
signaling
pathway
.
Phosphodiesterases
(
PDEs
)
are
key
regulatory
enzymes
of
intracellular
cAMP
/
cGMP
levels
.
These
second
messengers
play
important
regulatory
roles
in
controlling
steroidogenesis
in
the
adrenal
.
Disruption
of
PDEs
has
been
associated
with
a
number
of
adrenal
diseases
.
Specifically
,
genetic
mutations
have
been
associated
with
benign
adrenal
lesions
,
leading
to
Cushing
syndrome
and
/
or
related
adrenal
hyperplasias
.
A
Genome
Wide
Association
study
,
in
2006
,
led
to
the
identification
of
mutations
in
2
PDE
genes
:
PDE
8
B
and
PDE
11
A
;
mutations
in
these
2
genes
modulate
steroidogenesis
.
Further
human
studies
have
identified
PDE
2
as
also
directly
regulating
steroidogenesis
.
PDE
2
decreases
aldosterone
production
.
This
review
focuses
on
the
most
recent
knowledge
we
have
gained
on
PDEs
and
their
association
with
adrenal
steroidogenesis
and
altered
function
,
through
analysis
of
patient
cohorts
and
what
we
have
learned
from
mouse
studies
.
