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Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels.
[neonatal adrenoleukodystrophy]
Zellweger
syndrome
(
ZS
)
,
neonatal
adrenoleukodystrophy
(
NALD
)
,
and
infantile
Refsum
disease
(
IRD
)
are
clinically
overlapping
syndromes
,
collectively
called
"
peroxisome
biogenesis
disorders
"
(
PBDs
)
,
with
clinical
features
being
most
severe
in
ZS
and
least
pronounced
in
IRD
.
Inheritance
of
these
disorders
is
autosomal
recessive
.
The
peroxisome
biogenesis
disorders
are
genetically
heterogeneous
,
having
at
least
12
different
complementation
groups
(
CGs
)
.
The
gene
affected
in
CG
1
is
PEX
1
.
Approximately
65
%
of
the
patients
with
PBD
harbor
mutations
in
PEX
1
.
In
the
present
study
,
we
used
SSCP
analysis
to
evaluate
a
series
of
patients
belonging
to
CG
1
for
mutations
in
PEX
1
and
studied
phenotype-genotype
correlations
.
A
complete
lack
of
PEX
1
protein
was
found
to
be
associated
with
severe
ZS
;
however
,
residual
amounts
of
PEX
1
protein
were
found
in
patients
with
the
milder
phenotypes
,
NALD
and
IRD
.
The
majority
of
these
latter
patients
carried
at
least
one
copy
of
the
common
G
8
43
D
allele
.
When
patient
fibroblasts
harboring
this
allele
were
grown
at
30
degrees
C
,
a
two
-
to
threefold
increase
in
PEX
1
protein
levels
was
observed
,
associated
with
a
recovery
of
peroxisomal
function
.
This
suggests
that
the
G
8
43
D
missense
mutation
results
in
a
misfolded
protein
,
which
is
more
stable
at
lower
temperatures
.
We
conclude
that
the
search
for
the
factors
and
/
or
mechanisms
that
determine
the
stability
of
mutant
PEX
1
protein
by
high
-throughput
procedures
will
be
a
first
step
in
the
development
of
therapeutic
strategies
for
patients
with
mild
PBDs
.
Diseases
Validation
Diseases presenting
"mutations in pex1"
symptom
neonatal adrenoleukodystrophy
zellweger syndrome
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