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A Drosophila model for the Zellweger spectrum of peroxisome biogenesis disorders.
[zellweger syndrome]
Human
peroxisome
biogenesis
disorders
are
lethal
genetic
diseases
in
which
abnormal
peroxisome
assembly
compromises
overall
peroxisome
and
cellular
function
.
Peroxisomes
are
ubiquitous
membrane-bound
organelles
involved
in
several
important
biochemical
processes
,
notably
lipid
metabolism
and
the
use
of
reactive
oxygen
species
for
detoxification
.
Using
cultured
cells
,
we
systematically
characterized
the
peroxisome
assembly
phenotypes
associated
with
dsRNA-mediated
knockdown
of
14
predicted
Drosophila
homologs
of
PEX
genes
(
encoding
peroxins
;
required
for
peroxisome
assembly
and
linked
to
peroxisome
biogenesis
disorders
)
,
and
confirmed
that
at
least
13
of
them
are
required
for
normal
peroxisome
assembly
.
We
also
demonstrate
the
relevance
of
Drosophila
as
a
genetic
model
for
the
early
developmental
defects
associated
with
the
human
peroxisome
biogenesis
disorders
.
Mutation
of
the
PEX
1
gene
is
the
most
common
cause
of
peroxisome
biogenesis
disorders
and
is
one
of
the
causes
of
the
most
severe
form
of
the
disease
,
Zellweger
syndrome
.
Inherited
mutations
in
Drosophila
Pex
1
correlate
with
reproducible
defects
during
early
development
.
Notably
,
Pex
1
mutant
larvae
exhibit
abnormalities
that
are
analogous
to
those
exhibited
by
Zellweger
syndrome
patients
,
including
developmental
delay
,
poor
feeding
,
severe
structural
abnormalities
in
the
peripheral
and
central
nervous
systems
,
and
early
death
.
Finally
,
microarray
analysis
defined
several
clusters
of
genes
whose
expression
varied
significantly
between
wild-
type
and
mutant
larvae
,
implicating
peroxisomal
function
in
neuronal
development
,
innate
immunity
,
lipid
and
protein
metabolism
,
gamete
formation
,
and
meiosis
.
Diseases
Validation
Diseases presenting
"notably lipid metabolism and the use of reactive oxygen species for detoxification"
symptom
zellweger syndrome
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