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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
.
