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Pharmacological induction of peroxisomes in peroxisome biogenesis disorders.
[neonatal adrenoleukodystrophy]
Inherited
aberrant
peroxisome
assembly
results
in
a
group
of
neurological
diseases
termed
peroxisome
biogenesis
disorders
(
PBDs
)
.
PBDs
include
three
major
clinical
phenotypes
that
represent
a
continuum
of
clinical
features
from
the
most
severe
form
,
Zellweger
syndrome
(
ZS
)
,
through
neonatal
adrenoleukodystrophy
(
NALD
)
to
the
least
severe
form
,
infantile
Refsum
's
disease
(
IRD
)
.
Somatic
cell
complementation
studies
have
identified
13
PBD
complementation
groups
,
each
representing
a
defect
in
a
peroxisomal
protein
(
peroxin
)
involved
in
peroxisome
biogenesis
.
Most
complementation
groups
include
a
range
of
clinical
phenotypes
.
In
this
study
,
peroxisome
numbers
were
determined
in
fibroblasts
from
29
PBD
(
ZS
,
NALD
,
and
IRD
)
patients
,
with
various
phenotypes
from
nine
complementation
groups
,
using
antibodies
against
either
a
peroxisomal
membrane
protein
(
anti-
Pex
14
p
)
or
peroxisomal
matrix
proteins
(
anti-
SKL
)
.
A
correlation
between
the
number
of
peroxisomes
,
determined
with
either
antibody
,
and
PBD
phenotype
was
found
,
suggesting
that
induction
of
peroxisome
number
might
have
a
favorable
effect
on
PBD
.
After
treatment
of
PBD
fibroblasts
with
sodium
4
-
phenylbutyrate
,
a
human
peroxisome
proliferator
,
there
was
an
approximate
twofold
increase
in
peroxisome
number
.
After
4
-
phenylbutyrate
treatment
,
an
increase
in
transcription
of
the
adrenoleukodystrophy-related
gene
and
the
peroxin
gene
,
PEX
1
1
alpha
,
was
found
in
PBD
fibroblasts
.
In
NALD
and
IRD
,
but
not
ZS
,
fibroblasts
there
was
an
increase
in
very
-
long
-chain
fatty
acid
beta
-oxidation
and
plasmalogen
concentrations
,
and
a
decrease
in
very
-
long
-chain
fatty
acid
concentrations
.
These
data
suggest
that
pharmacological
agents
that
induce
peroxisome
proliferation
,
such
as
4
-
phenylbutyrate
,
may
have
therapeutic
potential
in
the
treatment
of
PBD
patients
with
milder
phenotypes
(
NALD
and
IRD
)
.
Diseases
Validation
Diseases presenting
"severe form"
symptom
alpha-thalassemia
benign recurrent intrahepatic cholestasis
canavan disease
child syndrome
congenital adrenal hyperplasia
dentinogenesis imperfecta
dystrophic epidermolysis bullosa
fabry disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
harlequin ichthyosis
heparin-induced thrombocytopenia
hirschsprung disease
inclusion body myositis
kindler syndrome
lamellar ichthyosis
legionellosis
locked-in syndrome
megacystis-microcolon-intestinal hypoperistalsis syndrome
neonatal adrenoleukodystrophy
neuralgic amyotrophy
papillon-lefèvre syndrome
zellweger syndrome
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