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A random Abstract
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Activating hotspot L205R mutation in PRKACA and adrenal Cushing's syndrome.
[cushing syndrome]
Adrenal
Cushing
's
syndrome
is
caused
by
excess
production
of
glucocorticoid
from
adrenocortical
tumors
and
hyperplasias
,
which
leads
to
metabolic
disorders
.
We
performed
whole-exome
sequencing
of
49
blood
-
tumor
pairs
and
RNA
sequencing
of
44
tumors
from
cortisol-producing
adrenocortical
adenomas
(
ACAs
)
,
adrenocorticotropic
hormone-independent
macronodular
adrenocortical
hyperplasias
(
AIMAHs
)
,
and
adrenocortical
oncocytomas
(
ADOs
)
.
We
identified
a
hotspot
in
the
PRKACA
gene
with
a
L
205
R
mutation
in
69
.
2
%
(
27
out
of
39
)
of
ACAs
and
validated
in
65
.
5
%
of
a
total
of
87
ACAs
.
Our
data
revealed
that
the
activating
L
205
R
mutation
,
which
locates
in
the
P
+
1
loop
of
the
protein
kinase
A
(
PKA
)
catalytic
subunit
,
promoted
PKA
substrate
phosphorylation
and
target
gene
expression
.
Moreover
,
we
discovered
the
recurrently
mutated
gene
DOT
1
L
in
AIMAHs
and
CLASP
2
in
ADOs
.
Collectively
,
these
data
highlight
potentially
functional
mutated
genes
in
adrenal
Cushing
's
syndrome
.
Diseases
Validation
Diseases presenting
"adrenocortical oncocytomas"
symptom
cushing syndrome
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