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Oxidative stress underlying axonal degeneration in adrenoleukodystrophy: a paradigm for multifactorial neurodegenerative diseases?
[x-linked adrenoleukodystrophy]
X-
linked
adrenoleukodystrophy
(
X-
ALD
)
is
an
inherited
neurodegenerative
disorder
expressed
as
four
disease
variants
characterized
by
adrenal
insufficiency
and
graded
damage
in
the
nervous
system
.
X-
ALD
is
caused
by
a
loss
of
function
of
the
peroxisomal
ABCD
1
fatty-acid
transporter
,
resulting
in
the
accumulation
of
very
long
chain
fatty
acids
(
VLCFA
)
in
the
organs
and
plasma
,
which
have
potentially
toxic
effects
in
CNS
and
adrenal
glands
.
We
have
recently
shown
that
treatment
with
a
combination
of
antioxidants
containing
α-tocopherol
,
N-
acetyl-cysteine
and
α-lipoic
acid
reversed
oxidative
damage
and
energetic
failure
,
together
with
the
axonal
degeneration
and
locomotor
impairment
displayed
by
Abcd
1
null
mice
,
the
animal
model
of
X-
ALD
.
This
is
the
first
direct
demonstration
that
oxidative
stress
,
which
is
a
hallmark
not
only
of
X-
ALD
,
but
also
of
other
neurodegenerative
processes
,
such
as
Alzheimer
's
disease
(
AD
)
,
Parkinson
's
disease
(
PD
)
and
Huntington
's
disease
(
HD
)
,
contributes
to
axonal
damage
.
The
purpose
of
this
review
is
,
first
,
to
discuss
the
molecular
and
cellular
underpinnings
of
VLCFA-induced
oxidative
stress
,
and
how
it
interacts
with
energy
metabolism
and
/
or
inflammation
to
generate
a
complex
syndrome
wherein
multiple
factors
are
contributing
.
Particular
attention
will
be
paid
to
the
dysregulation
of
redox
homeostasis
by
the
interplay
between
peroxisomes
and
mitochondria
.
Second
,
we
will
extend
this
analysis
to
the
aforementioned
neurodegenerative
diseases
with
the
aim
of
defining
differences
as
well
as
the
existence
of
a
core
pathogenic
mechanism
that
would
justify
the
exchange
of
therapeutic
opportunities
among
these
pathologies
.
Diseases
Validation
Diseases presenting
"loss of function of the peroxisomal abcd1 fatty-acid transporter"
symptom
x-linked adrenoleukodystrophy
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