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Resistance to erucic acid as a selectable marker for peroxisomal activity: isolation of revertants of an infantile Refsum disease cell line.
[neonatal adrenoleukodystrophy]
A
system
based
on
the
ability
of
cells
to
oxidize
very
long
-chain
fatty
acids
(
VLCFA
)
was
developed
to
select
in
vitro
normal
human
fibroblasts
from
fibroblasts
of
patients
suffering
from
peroxisomal
disorders
with
multienzymatic
deficiencies
:
Zellweger
syndrome
,
neonatal
adrenoleukodystrophy
,
infantile
Refsum
disease
(
IRD
)
.
Cells
treated
with
various
concentrations
of
erucic
acid
(
C
2
2
:
1
n-
9
)
revealed
an
enhanced
toxicity
of
this
fatty
acid
for
the
fibroblasts
of
patients
compared
with
normal
cells
.
This
differential
toxicity
is
correlated
with
variable
accumulations
of
C
2
2
:
1
n-
9
and
the
absence
of
beta
-oxidation
products
in
the
mutants
.
Revertants
from
clonal
IRD
cell
lines
were
isolated
in
the
selective
medium
at
frequencies
ranging
from
3
x
10
(
-
7
)
to
4
x
10
(
-
6
)
depending
on
the
line
.
After
six
weeks
of
growth
in
the
absence
of
selective
pressure
,
the
variants
exhibited
a
resistance
level
to
C
2
2
:
1
n-
9
identical
to
that
of
normal
cells
.
Furthermore
,
beta
-oxidation
of
VLCFA
is
re
-established
in
these
selected
cells
as
well
as
dihydroxyacetone
phosphate
acyltransferase
activity
.
Immunoblot
experiments
also
demonstrated
a
restored
pattern
of
acyl-
CoA
oxidase
molecular
forms
.
Last
,
immunofluorescence
studies
revealed
the
presence
of
cytoplasmic
structures
that
were
absent
in
the
original
IRD
cells
.
Thus
,
both
the
deficiencies
in
metabolic
pathways
and
paucity
of
the
organelle
are
at
least
partially
corrected
in
the
selected
clones
.
Diseases
Validation
Diseases presenting
"the variants exhibited a resistance level to c22"
symptom
neonatal adrenoleukodystrophy
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