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Immunological analyses of alkyl-dihydroxyacetone-phosphate synthase in human peroxisomal disorders.
[neonatal adrenoleukodystrophy]
Alkyl-dihydroxyacetonephosphate
synthase
(
alkyl-
DHAP
synthase
)
is
a
peroxisomal
enzyme
involved
in
the
biosynthesis
of
ether
phospholipids
.
To
localize
the
enzyme
in
human
peroxisomal
disorders
,
indirect
immunofluorescence
and
immunoblot
analysis
was
performed
.
In
Zellweger
syndrome
and
rhizomelic
chondrodysplasia
punctata
fibroblast
cell
lines
,
alkyl-
DHAP
synthase
protein
levels
on
immunoblots
were
strongly
decreased
and
residual
immunofluorescence
was
diffusely
localized
throughout
the
cytoplasm
.
In
a
particular
neonatal
adrenoleukodystrophy
cell
line
,
characterized
by
the
absence
of
a
functional
peroxisomal
targeting
signal
1
receptor
,
the
precursor
form
of
the
enzyme
was
detected
in
Western
blots
at
levels
comparable
to
that
of
the
mature
enzyme
in
control
fibroblasts
.
Similarly
,
fibroblasts
from
patients
with
a
single
deficiency
in
the
activity
of
either
alkyl-
DHAP
synthase
or
DHAP-acyltransferase
showed
normal
levels
of
the
mature
alkyl-
DHAP
synthase
protein
on
immunoblots
.
Immunofluorescence
experiments
revealed
a
peroxisomal
localization
of
both
the
precursor
and
the
mature
form
of
the
enzyme
.
Collectively
,
these
results
visualize
the
peroxisomal
localization
of
alkyl-
DHAP
synthase
,
indicate
that
the
enzyme
is
unstable
outside
its
target
organelle
and
explain
that
normal
enzyme
protein
levels
found
in
some
peroxisomal
disorders
result
from
protection
against
cytoplasmic
degradation
through
import
into
peroxisomes
.
Additionally
,
alkyl-
DHAP
synthase
could
be
detected
in
rat
mesangial
cells
and
murine
NIH-
3
R
3
fibroblasts
by
immunofluorescence
as
well
as
immunoblot
analysis
.
Immunoelectron
microscopy
showed
that
the
enzyme
is
predominantly
located
on
the
lumenal
side
of
the
peroxisomal
membrane
in
rat
and
guinea
pig
liver
.
Diseases
Validation
Diseases presenting
"single deficiency in the activity of either alkyl-dhap synthase"
symptom
neonatal adrenoleukodystrophy
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