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Temperature-sensitive mutation of PEX6 in peroxisome biogenesis disorders in complementation group C (CG-C): comparative study of PEX6 and PEX1.
[neonatal adrenoleukodystrophy]
Peroxisome
biogenesis
disorders
(
PBD
)
,
including
Zellweger
syndrome
,
neonatal
adrenoleukodystrophy
,
and
infantile
Refsum
disease
,
are
a
group
of
genetically
heterogeneous
autosomal-recessive
diseases
caused
by
mutations
in
PEX
genes
that
encode
peroxins
,
proteins
required
for
peroxisome
biogenesis
.
Zellweger
syndrome
patients
present
the
most
severe
phenotype
,
whereas
neonatal
adrenoleukodystrophy
patients
are
intermediate
and
infantile
Refsum
disease
patients
have
the
mildest
features
.
PEX
6
is
a
causative
gene
for
PBD
of
complementation
group
C
(
CG-C
)
and
encodes
the
peroxin
Pex
6
p
,
one
of
the
ATPases
associated
with
diverse
cellular
activities
and
a
member
of
the
same
family
of
proteins
as
Pex
1
p
,
a
causative
protein
for
PBD
of
CG-
E
(
CG
1
)
.
Here
,
we
identified
the
temperature
sensitivity
of
peroxisomes
in
the
fibroblasts
of
a
patient
with
neonatal
adrenoleukodystrophy
in
CG-C
.
Peroxisomes
were
morphologically
and
biochemically
formed
at
30
degrees
C
but
not
at
37
degrees
C
.
This
patient
was
homozygous
for
a
missense
mutation
,
T
--
>
C
at
nucleotide
170
resulting
in
a
change
from
leucine
to
proline
at
amino
acid
57
(
L
57
P
)
in
Pex
6
p
.
CG-C
cell
mutants
(
ZP
92
)
in
the
Chinese
hamster
ovary
transfected
with
L
57
P
in
HsPEX
6
revealed
the
same
temperature-sensitive
phenotype
.
However
,
PEX
1
-
deficient
Chinese
hamster
ovary
cell
mutants
(
ZP
1
01
)
transfected
with
L
111
P
in
PEX
1
,
the
counterpart
to
L
57
P
in
PEX
6
,
showed
no
temperature
sensitivity
.
In
addition
,
ZP
92
transfected
with
G
708
D
in
PEX
6
,
the
counterpart
to
the
temperature-sensitive
mutation
G
8
43
D
in
PEX
1
,
revealed
no
temperature-sensitive
phenotype
.
These
results
indicate
that
L
57
P
in
Pex
6
p
is
a
temperature-sensitive
mutation
causing
the
milder
phenotype
in
a
patient
with
PBD
in
CG-C
.
They
also
indicate
that
the
amino
acid
residues
responsible
for
temperature
sensitivity
do
not
seem
to
be
conserved
between
Pex
6
p
and
Pex
1
p
.
Diseases
Validation
Diseases presenting
"diverse cellular activities"
symptom
neonatal adrenoleukodystrophy
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