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[Human peroxisome-deficient disorders and pathogenic gene].
[neonatal adrenoleukodystrophy]
Peroxisome
is
a
model
organelle
to
investigate
the
mechanism
of
protein
translocation
and
organelle
assembly
.
Human
autosomal
recessive
peroxisomal
disorders
are
of
clinical
consequence
and
a
model
system
to
study
the
biogenesis
and
physiological
significance
of
peroxisomes
.
In
patients
with
generalized
peroxisomal
disease
such
as
cerebrohepatorenal
Zellweger
syndrome
where
peroxisomes
are
morphologically
absent
,
all
peroxisomal
proteins
appear
to
be
normally
synthesized
but
assembly
of
peroxisomes
is
impaired
.
Thus
far
,
nine
complementation
groups
have
been
reported
for
these
peroxisome-
deficient
disorders
including
Zellweger
syndrome
,
neonatal
adrenoleukodystrophy
,
and
infantile
Refsum
disease
.
To
investigate
the
molecular
mechanism
of
peroxisome
biogenesis
and
the
primary
defect
of
peroxisomal
disorders
,
we
have
thus
far
isolated
three
different
complementation
groups
of
Chinese
hamster
ovary
(
CHO
)
cell
mutants
defective
in
biogenesis
of
peroxisomes
.
By
genetic
functional
complementation
analysis
following
the
transfection
of
cDNA
library
to
one
of
these
cell
mutants
,
Z
65
,
we
identified
35
-
kDa
peroxisome
assembly
factor
-
1
(
PAF
-
1
)
essential
for
peroxisome
assembly
.
Moreover
,
we
delineated
the
primary
defect
in
a
Zellweger
patient
who
belonged
to
the
same
complementation
group
as
Z
65
.
The
cause
of
this
syndrome
was
a
homozygous
nonsense
point
mutation
at
119
Arg
in
PAF
-
1
gene
.
Comparison
of
PAF
-
1
sequences
from
rat
,
human
,
and
Chinese
hamster
revealed
that
PAF
-
1
is
highly
conserved
through
the
evolution
and
contains
a
novel
cysteine-rich
zinc
finger
,
RING
finger
motif
.
Diseases
Validation
Diseases presenting
"genetic functional complementation analysis"
symptom
neonatal adrenoleukodystrophy
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