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PEX13 is mutated in complementation group 13 of the peroxisome-biogenesis disorders.
[neonatal adrenoleukodystrophy]
The
peroxisome-biogenesis
disorders
(
PBDs
)
are
a
genetically
and
phenotypically
diverse
group
of
diseases
caused
by
defects
in
peroxisome
assembly
.
One
of
the
milder
clinical
variants
within
the
PBDs
is
neonatal
adrenoleukodystrophy
(
NALD
)
,
a
disease
that
is
usually
associated
with
partial
defects
in
the
import
of
peroxisomal
matrix
proteins
that
carry
the
type
1
or
type
2
peroxisomal
targeting
signals
.
Here
,
we
characterize
the
sole
representative
of
complementation
group
13
of
the
PBDs
,
a
patient
with
NALD
(
patient
PBD
222
)
.
Skin
fibroblasts
from
patient
PBD
222
display
defects
in
the
import
of
multiple
peroxisomal
matrix
proteins
.
However
,
residual
matrix-protein
import
can
be
detected
in
cells
from
patient
PBD
222
,
consistent
with
the
relatively
mild
phenotypes
of
the
patient
.
PEX
13
encodes
a
peroxisomal
membrane
protein
with
a
cytoplasmically
exposed
SH
3
domain
,
and
we
find
that
expression
of
human
PEX
13
restores
peroxisomal
matrix-protein
import
in
cells
from
patient
PBD
222
.
Furthermore
,
these
cells
are
homozygous
for
a
missense
mutation
at
a
conserved
position
in
the
PEX
13
SH
3
domain
.
This
mutation
attenuated
the
activity
of
human
PEX
13
,
and
an
analogous
mutation
in
yeast
PEX
13
also
reduced
its
activity
.
The
mutation
was
absent
in
>
100
control
alleles
,
indicating
that
it
is
not
a
common
polymorphism
.
Previous
studies
have
demonstrated
extragenic
suppression
in
the
PBDs
,
but
the
phenotypes
of
patient
PBD
222
cells
could
not
be
rescued
by
expression
of
any
other
human
PEX
genes
.
Taken
together
,
these
results
provide
strong
evidence
that
mutations
in
PEX
13
are
responsible
for
disease
in
patient
PBD
222
and
,
by
extension
,
in
complementation
group
13
of
the
PBDs
.
Diseases
Validation
Diseases presenting
"phenotypically diverse group"
symptom
neonatal adrenoleukodystrophy
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