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Stability of alkyl-dihydroxyacetonephosphate synthase in human control and peroxisomal disorder fibroblasts.
[neonatal adrenoleukodystrophy]
Alkyl-dihydroxyacetonephosphate
synthase
(
alkyl-
DHAP
synthase
)
is
a
peroxisomal
enzyme
that
plays
a
key
role
in
ether
phospholipid
biosynthesis
.
To
determine
the
turnover
of
alkyl-
DHAP
synthase
in
several
peroxisomal
disorders
,
pulse-chase
experiments
were
performed
.
In
control
fibroblasts
,
mature
alkyl-
DHAP
synthase
displayed
a
half
-life
of
23
+
/
-
12
h
.
In
Zellweger
syndrome
and
rhizomelic
chondrodysplasia
punctata
fibroblast
cell
lines
,
in
which
alkyl-
DHAP
synthase
can
not
be
imported
into
peroxisomes
,
the
enzyme
was
mainly
detected
in
its
precursor
form
.
This
precursor
form
showed
a
much
shorter
half
-life
,
5
+
/
-
2
h
.
In
contrast
,
when
the
precursor
protein
accumulated
inside
the
peroxisome
of
a
particular
neonatal
adrenoleukodystrophy
cell
line
in
which
processing
does
not
take
place
,
a
half
-life
of
18
+
/
-
8
h
,
resembling
that
of
the
mature
protein
in
controls
,
was
observed
.
In
a
cell
line
from
a
patient
with
a
single
deficiency
in
the
activity
of
alkyl-
DHAP
synthase
,
the
mature
form
was
detected
and
its
radioactivity
decreased
with
a
half
-life
of
16
+
/
-
7
h
.
Collectively
,
these
results
provide
an
explanation
for
the
instability
of
alkyl-
DHAP
synthase
outside
its
target
organelle
.
Additionally
,
they
indicate
that
both
the
precursor
and
mature
form
of
alkyl-
DHAP
synthase
exhibit
considerable
intraperoxisomal
turnover
.
Diseases
Validation
Diseases presenting
"deficiency in the activity of alkyl-dhap"
symptom
neonatal adrenoleukodystrophy
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