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Peroxisomal very long chain fatty acid beta-oxidation activity is determined by the level of adrenodeukodystrophy protein (ALDP) expression.
[neonatal adrenoleukodystrophy]
Impaired
peroxisomal
beta
-oxidation
of
saturated
very
long
chain
fatty
acids
(
VLCFA
,
>
/
=
C
2
2
:
0
)
results
in
increased
VLCFA
levels
in
the
tissues
and
body
fluids
of
patients
with
disorders
of
peroxisomal
biogenesis
(
i
.
e
.
,
Zellweger
syndrome
and
neonatal
adrenoleukodystrophy
)
and
single
peroxisomal
protein
defects
(
i
.
e
.
,
X-
linked
adrenoleukodystrophy
(
X-
ALD
)
and
acyl-
CoA
oxidase
deficiency
)
.
We
show
that
SV
40
T
transformation
also
results
in
impaired
peroxisomal
beta
-oxidation
and
VLCFA
accumulation
despite
the
presence
of
abundant
peroxisomes
.
To
explore
the
mechanism
responsible
for
this
observation
,
we
have
examined
expression
of
key
components
of
peroxisomal
VLCFA
beta
-oxidation
.
We
found
that
expression
of
both
acyl-
CoA
oxidase
,
the
rate
limiting
enzyme
of
peroxisomal
VLCFA
beta
-oxidation
and
the
adrenoleukodystrophy
protein
(
ALDP
)
,
the
defective
gene
product
in
X-
ALD
,
are
reduced
after
SV
40
T
transformation
.
Surprisingly
,
ALDP
overexpression
by
itself
restores
peroxisomal
VLCFA
beta
-oxidation
in
SV
40
T
-
transformed
control
and
X-
ALD
cells
.
These
results
demonstrate
that
ALDP
is
a
fundamental
component
in
VLCFA
peroxisomal
beta
-oxidation
and
may
serve
as
a
"
gatekeeper
"
for
VLCFA
homeostasis
.
Diseases
Validation
Diseases presenting
"very long chain fatty acids"
symptom
adrenomyeloneuropathy
gm1 gangliosidosis
krabbe disease
lamellar ichthyosis
neonatal adrenoleukodystrophy
pyruvate dehydrogenase deficiency
triple a syndrome
von hippel-lindau disease
x-linked adrenoleukodystrophy
zellweger syndrome
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