Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Enhanced expression of a-series gangliosides in fibroblasts of patients with peroxisome biogenesis disorders.
[neonatal adrenoleukodystrophy]
Peroxisome
biogenesis
disorders
(
PBD
)
are
classified
into
Zellweger
syndrome
(
ZS
)
,
infantile
Refsum
disease
(
IRD
)
and
neonatal
adrenoleukodystrophy
.
Disturbances
in
the
differentiation
of
neural
cells
such
as
migration
arrest
are
characteristic
of
PBD
.
So
far
the
pathogenesis
of
these
disturbances
is
not
clearly
understood
.
We
describe
an
altered
metabolism
of
glycosphingolipids
in
PBD
which
has
not
yet
been
investigated
.
We
observed
an
increased
amount
of
a-series
gangliosides
,
GM
2
,
GM
1
and
GD
1
a
,
in
the
fibroblasts
of
patients
with
ZS
and
IRD
.
Gangliosides
GM
1
and
GD
1
a
were
not
present
in
detectable
amounts
in
normal
subjects
.
A
key
step
in
the
synthesis
of
a-series
gangliosides
is
a
transfer
of
GalNAc
to
ganglioside
GM
3
,
so
we
determined
the
level
of
ganglioside
GM
3
by
immunohistochemical
methods
.
We
found
a
granular
structure
,
which
was
positive
toward
anti-ganglioside
GM
3
antibody
in
the
cytoplasm
of
the
patients
'
fibroblasts
.
In
control
cells
,
the
cell
membrane
was
slightly
positive
toward
anti-
GM
3
antibody
.
These
results
may
help
to
clarify
the
pathogenesis
of
PBD
with
respect
to
the
functional
roles
of
glycosphingolipids
in
cell
differentiation
,
proliferation
and
apoptosis
.