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Central serotonergic neuron deficiency in a mouse model of Zellweger syndrome.
[zellweger syndrome]
Zellweger
syndrome
(
ZS
)
is
a
severe
peroxisomal
disorder
caused
by
mutations
in
peroxisome
biogenesis
,
or
PEX
,
genes
.
A
central
hallmark
of
ZS
is
abnormal
neuronal
migration
and
neurodegeneration
,
which
manifests
as
widespread
neurological
dysfunction
.
The
molecular
basis
of
ZS
neuropathology
is
not
well
understood
.
Here
we
present
findings
using
a
mouse
model
of
ZS
neuropathology
with
conditional
brain
inactivation
of
the
PEX
13
gene
.
We
demonstrate
that
PEX
13
brain
mutants
display
changes
that
reflect
an
abnormal
serotonergic
system
-
decreased
levels
of
tryptophan
hydroxylase-
2
,
the
rate-limiting
enzyme
of
serotonin
(
5
-
hydroxytryptamine
,
5
-
HT
)
synthesis
,
dysmorphic
5
-
HT-
positive
neurons
,
abnormal
distribution
of
5
-
HT
neurons
,
and
dystrophic
serotonergic
axons
.
The
raphe
nuclei
region
of
PEX
13
brain
mutants
also
display
increased
levels
of
apoptotic
cells
and
reactive
,
inflammatory
gliosis
.
Given
the
role
of
the
serotonergic
system
in
brain
development
and
motor
control
,
dysfunction
of
this
system
would
account
in
part
for
the
observed
neurological
changes
of
PEX
13
brain
mutants
.
Diseases
Validation
Diseases presenting
"widespread neurological dysfunction"
symptom
zellweger syndrome
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