Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
"high levels"
symptom
22q11.2 deletion syndrome
adrenal incidentaloma
allergic bronchopulmonary aspergillosis
alpha-thalassemia
aromatase deficiency
cadasil
canavan disease
classical phenylketonuria
congenital adrenal hyperplasia
congenital toxoplasmosis
cutaneous mastocytosis
cystinuria
dentin dysplasia
dentinogenesis imperfecta
dracunculiasis
dystrophic epidermolysis bullosa
erythropoietic protoporphyria
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
holt-oram syndrome
homocystinuria without methylmalonic aciduria
kabuki syndrome
kallmann syndrome
liposarcoma
papillon-lefèvre syndrome
phenylketonuria
primary effusion lymphoma
primary hyperoxaluria type 1
scrub typhus
severe combined immunodeficiency
systemic capillary leak syndrome
triple a syndrome
von hippel-lindau disease
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom