Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Cholesterol biosynthesis in dermal fibroblasts from patients with metabolic disorders of peroxisomal origin.
[neonatal adrenoleukodystrophy]
As
peroxisomes
possess
some
of
the
integral
enzymes
for
cholesterol
biosynthesis
,
the
role
of
these
organelles
in
cholesterol
formation
was
studied
in
dermal
fibroblasts
with
three
types
of
peroxisomal
defect
:
group
I
,
characterized
by
the
absence
of
intact
peroxisomes
(
neonatal
adrenoleukodystrophy
,
cerebrohepatorenal
syndrome
of
Zellweger
)
;
group
II
,
showing
impaired
activity
of
a
single
peroxisomal
enzyme
(
X-
linked
adrenoleukodystrophy
,
adrenomyeloneuropathy
)
;
and
group
III
,
defective
in
more
than
one
peroxisomal
enzyme
(
rhizomelic
chondrodysplasia
punctata
)
.
Cells
were
incubated
with
three
different
radioactive
precursors
,
namely
[
14
C
]
-
octanoate
,
[
14
C
]
-
acetate
,
and
[
3
H
]
-
mevalonate
,
and
incorporation
of
these
radiolabels
into
cholesterol
was
determined
.
All
fibroblasts
with
peroxisomal
defects
were
able
to
form
cholesterol
at
concentrations
comparable
or
higher
than
those
in
controls
dependent
on
the
radioactive
substrate
.
Binding
properties
(
KD
)
and
bmax
values
)
of
LDL
to
fibroblasts
with
peroxisomal
defects
and
downregulation
of
intracellular
cholesterol
biosynthesis
were
similar
to
those
found
in
fibroblasts
from
normolipidaemic
controls
,
but
different
to
those
observed
in
LDL-receptor
negative
fibroblasts
.
As
our
studies
revealed
that
cholesterol
biosynthesis
is
not
impaired
in
fibroblasts
from
patients
with
metabolic
disorders
of
peroxisomal
origin
,
we
conclude
that
peroxisomes
play
little
or
no
role
in
the
pathway
of
cholesterol
synthesis
beyond
mevalonate
.
In
earlier
steps
of
the
cholesterol
synthesis
pathway
,
peroxisomal
and
mitochondrial
defects
in
parallel
may
alter
cholesterol
synthesis
indirectly
.
Diseases
Validation
Diseases presenting
"namely"
symptom
hydrocephalus with stenosis of the aqueduct of sylvius
neonatal adrenoleukodystrophy
phenylketonuria
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom