Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
"partial defects in the import of peroxisomal matrix proteins that"
symptom
neonatal adrenoleukodystrophy
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom