Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Critical role of iron in the pathogenesis of the murine gangliosidoses.
[gm1 gangliosidosis]
Neurodegeneration
is
a
prominent
feature
of
the
gangliosidoses
,
a
group
of
lysosomal
storage
diseases
.
Here
we
show
altered
iron
homeostasis
in
mouse
models
of
both
GM
1
and
GM
2
gangliosidoses
,
which
are
characterized
by
progressive
depletion
of
iron
in
brain
tissue
.
This
finding
contrasts
with
the
findings
in
many
other
neurological
disorders
,
where
excess
iron
deposition
has
been
reported
.
We
found
that
key
regulators
of
iron
homeostasis
,
hepcidin
and
IL
-
6
,
were
increased
in
gangliosidoses
mice
.
In
the
brain
,
the
principal
iron
transport
and
delivery
protein
transferrin
was
reduced
,
accompanied
by
a
progressive
inability
of
the
brain
to
acquire
iron
from
the
circulation
.
Expression
of
the
transferrin
receptor
was
up-regulated
reciprocally
.
Despite
the
deregulation
of
iron
homeostasis
administration
of
iron
prolonged
survival
in
the
diseased
mice
by
up
to
38
%
,
with
onset
of
disease
delayed
and
motor
function
preserved
.
Diseases
Validation
Diseases presenting
"neurodegeneration"
symptom
adrenomyeloneuropathy
alexander disease
cadasil
canavan disease
classical phenylketonuria
fabry disease
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
krabbe disease
neonatal adrenoleukodystrophy
neuralgic amyotrophy
oculocutaneous albinism
pyruvate dehydrogenase deficiency
triple a syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated