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Identification of the sites of expression of triple A syndrome mRNA in the rat using in situ hybridisation.
[triple a syndrome]
Triple
A
syndrome
is
characterised
by
achalasia
,
alacrima
,
adrenocorticotropin-resistant
adrenal
insufficiency
and
a
variable
and
progressive
neurological
phenotype
.
It
is
caused
by
mutations
in
a
gene
that
is
normally
referred
to
as
the
triple
A
syndrome
gene
(
AAAS
)
and
which
has
recently
been
shown
to
encode
a
nuclear
pore
protein
named
ALADIN
(
alacrima
,
achalasia
,
adrenal
insufficiency
neurologic
disorder
)
.
In
this
study
we
performed
in
situ
hybridisation
with
radioactive
oligonucleotide
probes
in
the
adult
and
developing
rat
and
present
the
first
detailed
map
of
AAAS
mRNA
expression
.
Consistent
with
a
role
for
AAAS
in
adrenal
function
,
we
detected
high
levels
of
its
mRNA
in
the
adrenal
cortex
.
On
the
other
hand
hepatocytes
,
enteric
smooth
muscle
and
fibroblasts
had
relatively
little
or
no
detectable
AAAS
mRNA
.
In
both
the
peripheral
and
central
nervous
systems
,
AAAS
mRNA
was
abundantly
expressed
.
Neurons
in
sensory
and
sympathetic
ganglia
expressed
high
levels
.
CNS
expression
was
highest
in
neurons
of
the
cerebral
cortex
,
cerebellum
,
hippocampus
,
motor
-associated
nuclei
of
the
brainstem
including
cranial
nerve
nuclei
,
and
ventral
horn
of
the
spinal
cord
.
Although
neuronal
expression
of
AAAS
mRNA
was
striking
,
non-
neuronal
cells
including
those
of
the
circumventricular
organs
and
fibrous
astrocytes
also
expressed
AAAS
mRNA
.
Within
the
developing
embryo
,
the
highest
levels
of
expression
were
found
in
neural
tissues
.
These
findings
indicate
a
widespread
but
not
ubiquitous
or
uniform
expression
of
AAAS
mRNA
in
the
rat
.
Robust
expression
in
neural
systems
associated
with
cognitive
,
motor
and
sensory
functions
is
consistent
with
the
myriad
of
symptoms
experienced
by
patients
with
triple
A
syndrome
.
Diseases
Validation
Diseases presenting
"aaas mrna was abundantly expressed"
symptom
triple a syndrome
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