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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
"neurodegeneration"
symptom
adrenomyeloneuropathy
alexander disease
cadasil
canavan disease
classical phenylketonuria
fabry disease
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
krabbe disease
neonatal adrenoleukodystrophy
neuralgic amyotrophy
oculocutaneous albinism
pyruvate dehydrogenase deficiency
triple a syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated
