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Altered phospholipid molecular species and glycolipid composition in brain, liver and fibroblasts of Zellweger syndrome.
[zellweger syndrome]
We
studied
the
altered
molecular
species
of
lipids
in
brain
and
liver
tissues
,
and
fibroblasts
from
patients
with
Zellweger
syndrome
(
ZS
)
.
ZS
cerebellum
samples
contained
a
higher
amount
of
sphingomyelin
with
shorter
chain
fatty
acids
compared
to
that
in
normal
controls
.
The
amount
of
phosphatidylethanolamine
(
PE
)
was
less
than
half
of
that
in
controls
,
with
the
absence
of
the
PE-
type
of
plasmalogen
.
Gangliosides
were
accumulated
in
the
brains
and
fibroblasts
of
ZS
patients
.
To
investigate
whether
or
not
impaired
beta
-oxidation
of
very
long
chain
fatty
acids
and
/
or
plasmalogen
synthesis
affects
glycolipids
metabolism
,
RNAi
of
peroxisomal
acylCo-A
oxidase
(
ACOX
1
)
and
glyceronephosphate
O-
acyltransferase
(
GNPAT
)
was
performed
using
cultured
neural
cells
.
In
neuronal
F
3
-
Ngn
1
cells
,
ACOX
1
and
GNPAT
silencing
up-regulated
ceramide
galactosyltransferase
(
UGT
8
)
mRNA
expression
,
and
down-regulated
UDP-glucose
ceramide
glucosyltransferase
(
UGCG
)
.
These
results
suggest
that
both
impaired
beta
-oxidation
of
very
long
chain
fatty
acids
and
plasmalogen
synthesis
affect
glycolipid
metabolism
in
neuronal
cells
.
