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Molecular species of phospholipids with very long chain fatty acids in skin fibroblasts of Zellweger syndrome.
[zellweger syndrome]
The
ratio
of
C
26
:
0
/
C
22
:
0
fatty
acids
in
patient
lipids
is
widely
accepted
as
a
critical
clinical
criterion
of
peroxisomal
diseases
,
such
as
Zellweger
syndrome
and
X-
linked
adrenoleukodystrophy
(
X-
ALD
)
.
However
,
phospholipid
molecular
species
with
very
long
chain
fatty
acids
(
VLCFA
)
have
not
been
precisely
characterized
.
In
the
present
study
,
the
structures
of
such
molecules
in
fibroblasts
of
Zellweger
syndrome
and
X-
ALD
were
examined
using
LC
-
ESI
-
MS
/
MS
analysis
.
In
fibroblasts
from
Zellweger
patients
,
a
large
number
of
VLCFA-containing
molecular
species
were
detected
in
several
phospholipid
classes
as
well
as
neutral
lipids
,
including
triacylglycerol
and
cholesteryl
esters
.
Among
these
lipids
,
phosphatidylcholine
showed
the
most
diversity
in
the
structures
of
VLCFA-containing
molecular
species
.
Some
VLCFA
possessed
longer
carbon
chains
and
/
or
larger
number
of
double
bonds
than
C
26
:
0
-
fatty
acid
(
FA
)
.
Similar
VLCFA
were
also
found
in
other
phospholipid
classes
,
such
as
phosphatidylethanolamine
and
phosphatidylserine
.
In
addition
,
VLCFA-containing
phospholipid
species
showed
some
differences
among
fibroblasts
from
Zellweger
patients
.
It
appears
that
phospholipids
with
VLCFA
,
with
or
without
double
bonds
,
as
well
as
C
26
:
0
-
FA
might
affect
cellular
functions
,
thus
leading
to
the
pathogenesis
of
peroxisomal
diseases
,
such
as
Zellweger
syndrome
and
X-
ALD
.
Diseases
Validation
Diseases presenting
"very long chain fatty acids"
symptom
adrenomyeloneuropathy
gm1 gangliosidosis
krabbe disease
lamellar ichthyosis
neonatal adrenoleukodystrophy
pyruvate dehydrogenase deficiency
triple a syndrome
von hippel-lindau disease
x-linked adrenoleukodystrophy
zellweger syndrome
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