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Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage.
[adrenomyeloneuropathy]
ATP-binding
cassette
(
ABC
)
transporters
facilitate
unidirectional
translocation
of
chemically
diverse
substances
,
ranging
from
peptides
to
lipids
,
across
cell
or
organelle
membranes
.
In
peroxisomes
,
a
subfamily
of
four
ABC
transporters
(
ABCD
1
to
ABCD
4
)
has
been
related
to
fatty
acid
transport
,
because
patients
with
mutations
in
ABCD
1
(
ALD
gene
)
suffer
from
X-
linked
adrenoleukodystrophy
(
X-
ALD
)
,
a
disease
characterized
by
an
accumulation
of
very
-
long
-chain
fatty
acids
(
VLCFAs
)
.
Inactivation
in
the
mouse
of
the
abcd
1
gene
leads
to
a
late-onset
neurodegenerative
condition
,
comparable
to
the
late-onset
form
of
X-
ALD
[
Pujol
,
A
.
,
Hindelang
,
C
.
,
Callizot
,
N
.
,
Bartsch
,
U
.
,
Schachner
,
M
.
and
Mandel
,
J
.
L
.
(
2002
)
Late
onset
neurological
phenotype
of
the
X-
ALD
gene
inactivation
in
mice
:
a
mouse
model
for
adrenomyeloneuropathy
.
Hum
.
Mol
.
Genet
.
,
11
,
499
-
505
.
]
.
In
the
present
work
,
we
have
generated
and
characterized
a
mouse
deficient
for
abcd
2
,
the
closest
paralog
to
abcd
1
.
The
main
pathological
feature
in
abcd
2
-
/
-
mice
is
a
late-onset
cerebellar
and
sensory
ataxia
,
with
loss
of
cerebellar
Purkinje
cells
and
dorsal
root
ganglia
cell
degeneration
,
correlating
with
accumulation
of
VLCFAs
in
the
latter
cellular
population
.
Axonal
degeneration
was
present
in
dorsal
and
ventral
columns
in
spinal
cord
.
We
have
identified
mitochondrial
,
Golgi
and
endoplasmic
reticulum
damage
as
the
underlying
pathological
mechanism
,
thus
providing
evidence
of
a
disturbed
organelle
cross-talk
,
which
may
be
at
the
origin
of
the
pathological
cascade
.
Diseases
Validation
Diseases presenting
"late onset"
symptom
adrenomyeloneuropathy
cadasil
canavan disease
congenital adrenal hyperplasia
cowden syndrome
cutaneous mastocytosis
homocystinuria without methylmalonic aciduria
junctional epidermolysis bullosa
kabuki syndrome
krabbe disease
neonatal adrenoleukodystrophy
omenn syndrome
phenylketonuria
primary hyperoxaluria type 1
proteus syndrome
pyruvate dehydrogenase deficiency
thoracic outlet syndrome
triple a syndrome
zellweger syndrome
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