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Temperature-sensitive mutation in PEX1 moderates the phenotypes of peroxisome deficiency disorders.
[neonatal adrenoleukodystrophy]
The
peroxisome
biogenesis
disorders
(
PBDs
)
,
including
Zellweger
syndrome
(
ZS
)
,
neonatal
adrenoleukodystrophy
(
NALD
)
and
infantile
Refsum
disease
(
IRD
)
,
are
autosomal
recessive
diseases
caused
by
deficiency
of
peroxisome
assembly
as
well
as
malfunction
of
peroxisomes
,
where
>
10
genotypes
have
been
reported
.
ZS
patients
manifest
the
most
severe
clinical
and
biochemical
abnormalities
,
while
those
with
NALD
and
IRD
show
the
least
severity
and
the
mildest
features
,
respectively
.
PEX
1
is
the
causative
gene
for
PBDs
of
complementation
group
I
(
CG
1
)
,
the
highest
incidence
PBD
,
and
encodes
the
peroxin
,
Pex
1
p
,
a
member
of
the
AAA
ATPase
family
.
In
the
present
work
,
we
found
that
peroxisomes
were
morphologically
and
biochemically
formed
at
30
but
not
37
degrees
C
,
in
the
fibroblasts
from
all
CG
1
IRD
patients
examined
,
whereas
almost
no
peroxisomes
were
seen
in
ZS
and
NALD
cells
,
even
at
30
degrees
C
.
A
point
missense
mutation
,
G
8
43
D
,
was
identified
in
the
PEX
1
allele
of
most
CG
1
IRD
patients
.
The
mutant
PEX
1
,
termed
HsPEX
1
G
8
43
D
,
gave
rise
to
the
same
temperature-sensitive
phenotype
on
CG
1
CHO
cell
mutants
upon
transfection
.
Collectively
,
these
results
demonstrate
temperature-sensitive
peroxisome
assembly
to
be
responsible
for
the
mildness
of
the
clinical
features
of
PEX
1
-
defective
IRD
of
CG
1
.
Diseases
Validation
Diseases presenting
"deficiency of peroxisome assembly as well as malfunction of peroxisomes"
symptom
neonatal adrenoleukodystrophy
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