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Plasmalogens participate in very-long-chain fatty acid-induced pathology.
[zellweger syndrome]
Peroxisomes
are
organelles
responsible
for
multiple
metabolic
pathways
including
,
the
biosynthesis
of
plasmalogens
,
a
class
of
phospholipids
,
and
the
beta
-oxidation
of
very
-
long
-chain
fatty
acids
(
VLCFA
)
.
Lack
of
peroxisomes
or
dysfunction
in
any
of
their
normal
functions
is
the
cellular
basis
for
human
peroxisomal
disorders
.
Here
we
used
mouse
models
to
understand
and
define
the
biochemical
and
cellular
determinants
that
mediate
the
pathophysiological
consequences
caused
by
peroxisomal
dysfunctions
.
We
investigated
the
role
and
effects
of
cellular
plasmalogens
and
VLCFA
accumulation
in
liver
,
testis
and
nervous
tissue
using
Pex
7
and
Abcd
1
knockout
(
KO
)
mice
.
In
addition
,
we
also
generated
a
Pex
7
:
Abcd
1
double
KO
mouse
to
investigate
how
different
peroxisomal
dysfunctions
modulate
cellular
function
and
pathology
.
We
found
that
plasmalogens
function
as
fundamental
structural
phospholipids
and
protect
cells
from
damage
caused
by
VLCFA
accumulation
.
In
testis
,
plasmalogens
protect
spermatocytes
from
VLCFA-induced
degeneration
and
apoptosis
.
In
nervous
tissue
,
we
found
that
gliosis
,
inflammatory
demyelination
and
axonopathy
caused
by
accumulation
of
VLCFA
are
modulated
by
plasmalogens
.
Our
findings
demonstrate
the
importance
of
normal
peroxisomal
functioning
and
allow
the
understanding
of
the
pathological
causality
of
peroxisomal
dysfunctions
.
Nervous
tissue
deficient
in
plasmalogens
is
more
prone
to
damage
,
illustrating
the
importance
of
plasmalogens
in
peroxisomal
disorders
including
Zellweger
syndrome
and
X-
linked
adrenoleukodystrophy
.
Diseases
Validation
Diseases presenting
"dysfunction in any of their normal functions is the cellular basis for human peroxisomal disorders"
symptom
zellweger syndrome
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