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A random Abstract
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Adrenocorticotropin resistance syndromes.
[triple a syndrome]
Familial
glucocorticoid
deficiency
(
FGD
)
and
triple
A
syndrome
belong
to
a
rare
group
of
autosomal
recessive
disorders
characterized
by
adrenocorticotropin
(
ACTH
)
insensitivity
.
Unlike
triple
A
syndrome
which
presents
a
range
of
clinical
features
,
FGD
is
solely
characterized
by
glucocorticoid
deficiency
.
ACTH
regulates
steroid
biosynthesis
in
the
adrenal
cortex
by
exerting
its
effects
via
the
ACTH
receptor
(
melanocortin-
2
receptor
,
MC
2
R
)
.
In
FGD
,
mutations
in
the
MC
2
R
account
for
only
approximately
25
%
of
cases
(
FGD
type
1
)
.
The
inability
to
express
a
functional
MC
2
R
in
non-
adrenal
cell
lines
had
implied
the
presence
of
an
adrenal
specific
accessory
factor
(
s
)
,
essential
for
MC
2
R
expression
.
More
recently
,
this
factor
was
identified
as
melanocortin
receptor
accessory
protein
(
MRAP
)
.
Mutations
in
MRAP
account
for
20
%
of
cases
(
FGD
type
2
)
.
Like
the
receptor
activity-modifying
proteins
(
RAMPs
)
and
receptor
transporter
proteins
(
RTPs
)
,
which
are
well-characterized
accessory
proteins
for
G-
protein-coupled
receptors
(
GPCRs
)
,
MRAP
is
a
small
single
transmembrane
domain
protein
.
MRAP
is
essential
for
the
functional
expression
of
the
MC
2
R
.
About
55
%
of
FGD
cases
have
no
identifiable
gene
defect
,
implying
the
involvement
of
additional
genes
.
This
chapter
briefly
describes
the
clinical
and
biochemical
features
of
ACTH
resistance
syndromes
.
However
,
we
will
focus
on
the
recent
progress
made
towards
understanding
the
molecular
defect
underlying
these
conditions
,
in
particular
the
interaction
of
MC
2
R
and
MRAP
.
Diseases
Validation
Diseases presenting
"accessory protein"
symptom
benign recurrent intrahepatic cholestasis
triple a syndrome
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