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Heterogeneity in the molecular basis of ACTH resistance syndrome.
[triple a syndrome]
ACTH
resistance
syndromes
are
rare
,
autosomal
,
and
genetically
heterogeneous
diseases
that
include
familial
glucocorticoid
deficiency
(
FGD
)
and
triple
A
syndrome
.
FGD
has
been
shown
to
segregate
with
mutations
in
the
gene
coding
for
ACTH
receptor
(
MC
2
R
)
or
melanocortin
2
receptor
accessory
protein
(
MRAP
)
,
whereas
mutations
in
the
triple
A
syndrome
(
AAAS
,
Allgrove
syndrome
)
gene
have
been
found
in
segregation
with
triple
A
syndrome
.
We
describe
the
clinical
findings
and
molecular
analysis
of
MC
2
R
,
MRAP
,
and
AAAS
genes
in
five
Brazilian
patients
with
ACTH
resistance
syndrome
.
Genomic
DNA
from
patients
and
their
unaffected
relatives
was
extracted
from
peripheral
blood
leucocytes
and
amplified
by
PCR
,
followed
by
automated
sequencing
.
Functional
analysis
was
carried
out
using
Y
6
cells
expressing
wild-
type
and
mutant
MC
2
R
.
A
ll
five
patients
showed
low
cortisol
and
elevated
plasma
ACTH
levels
.
One
patient
had
achalasia
and
alacrima
,
besides
the
symptoms
of
adrenal
insufficiency
.
The
molecular
analysis
of
FGD
patients
revealed
a
novel
p
.
Gly
116
V
al
mutation
in
the
MC
2
R
gene
in
one
patient
and
p
.
Met
1
Ile
mutation
in
the
MRAP
gene
in
another
patient
.
Expression
of
p
.
Gly
116
V
al
MC
2
R
mutant
in
Y
6
cells
revealed
that
this
variant
failed
to
stimulate
cAMP
production
.
The
analysis
of
the
AAAS
gene
in
the
patient
with
triple
A
syndrome
showed
a
novel
g
.
782
_
783
delTG
deletion
.
The
molecular
analysis
of
DNA
from
other
two
patients
showed
no
mutation
in
MC
2
R
,
MRAP
,
or
AAAS
gene
.
In
conclusion
,
the
molecular
basis
of
ACTH
resistance
syndrome
is
heterogeneous
,
segregating
with
genes
coding
for
proteins
involved
with
ACTH
receptor
signaling
/
expression
or
adrenal
gland
development
and
other
unknown
genes
.
Diseases
Validation
Diseases presenting
"mrap"
symptom
triple a syndrome
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