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[Molecular analysis of peroxisomal disorders].
[neonatal adrenoleukodystrophy]
Peroxisome
biogenesis
disorders
(
PBD
)
include
Zellweger
syndrome
(
ZS
)
,
neonatal
adrenoleukodystrophy
(
NALD
)
and
infantile
Refsum
disease
(
IRD
)
.
They
are
classified
into
ten
complementation
groups
.
Five
pathogenic
genes
have
been
identified
using
different
model
systems
of
peroxisome
deficient
mutants
.
PAF
-
1
and
2
were
identified
from
CHO
mutants
and
were
responsible
genes
for
PBD
group
F
and
C
.
Human
PEX
5
,
12
and
1
,
responsible
genes
for
group
2
,
3
and
1
,
respectively
,
were
cloned
by
homology
search
between
yeast
PEX
genes
and
human
genes
on
the
cDNA
data
base
.
Adrenoleukodystrophy
(
ALD
)
,
the
most
frequent
peroxisomal
disorder
,
shows
phenotypic
heterogeneity
.
Its
responsible
gene
was
cloned
by
positional
cloning
.
It
encodes
a
75
kDa
peroxisomal
membrane
protein
(
ALDP
)
that
is
a
member
of
the
ATP-binding
cassette
transporter
family
.
There
are
about
120
different
mutations
including
missense
,
nonsense
and
splice
mutations
,
as
well
as
insertions
and
deletions
of
a
few
base
pairs
.
There
is
no
correlation
between
the
clinical
phenotype
and
the
ALDP
gene
mutation
.
Recently
,
animal
models
have
been
produced
by
targeted
mutation
of
the
PBD
and
ALD
genes
.
The
mouse
model
should
facilitate
researches
on
PBD
and
ALD
,
especially
those
on
regulatory
factors
of
their
phenotypic
heterogeneity
and
on
new
therapeutic
approaches
.
Diseases
Validation
Diseases presenting
"targeted mutation of the pbd and ald genes"
symptom
neonatal adrenoleukodystrophy
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