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Mice lacking the nuclear pore complex protein ALADIN show female infertility but fail to develop a phenotype resembling human triple A syndrome.
[triple a syndrome]
Triple
A
syndrome
is
a
human
autosomal
recessive
disorder
characterized
by
adrenal
insufficiency
,
achalasia
,
alacrima
,
and
neurological
abnormalities
affecting
the
central
,
peripheral
,
and
autonomic
nervous
systems
.
In
humans
,
this
disease
is
caused
by
mutations
in
the
AAAS
gene
,
which
encodes
ALADIN
,
a
protein
that
belongs
to
the
family
of
WD-repeat
proteins
and
localizes
to
nuclear
pore
complexes
.
To
analyze
the
function
of
the
gene
in
the
context
of
the
whole
organism
and
in
an
attempt
to
obtain
an
animal
model
for
human
triple
A
syndrome
,
we
generated
mice
lacking
a
functional
Aaas
gene
.
The
Aaas-
/
-
animals
were
found
to
be
externally
indistinguishable
from
their
wild-
type
littermates
,
although
their
body
weight
was
on
the
average
lower
than
that
of
wild-
type
mice
.
Histological
analysis
of
various
tissues
failed
to
reveal
any
differences
between
Aaas-
/
-
and
wild-
type
mice
.
Aaas-
/
-
mice
exhibit
unexpectedly
mild
abnormal
behavior
and
only
minor
neurological
deficits
.
Our
data
show
that
the
lack
of
ALADIN
in
mice
does
not
lead
to
a
triple
A
syndrome-like
disease
.
Thus
,
in
mice
either
the
function
of
ALADIN
differs
from
that
in
humans
,
its
loss
can
be
readily
compensated
for
,
or
additional
factors
,
such
as
environmental
conditions
or
genetic
modifiers
,
contribute
to
the
disease
.
Diseases
Validation
Diseases presenting
"which encodes aladin"
symptom
triple a syndrome
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