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Drosophila carrying pex3 or pex16 mutations are models of Zellweger syndrome that reflect its symptoms associated with the absence of peroxisomes.
[zellweger syndrome]
The
peroxisome
biogenesis
disorders
(
PBDs
)
are
currently
difficult-
to
-treat
multiple
-organ
dysfunction
disorders
that
result
from
the
defective
biogenesis
of
peroxisomes
.
Genes
encoding
Peroxins
,
which
are
required
for
peroxisome
biogenesis
or
functions
,
are
known
causative
genes
of
PBDs
.
The
human
peroxin
genes
PEX
3
or
PEX
16
are
required
for
peroxisomal
membrane
protein
targeting
,
and
their
mutations
cause
Zellweger
syndrome
,
a
class
of
PBDs
.
Lack
of
understanding
about
the
pathogenesis
of
Zellweger
syndrome
has
hindered
the
development
of
effective
treatments
.
Here
,
we
developed
potential
Drosophila
models
for
Zellweger
syndrome
,
in
which
the
Drosophila
pex
3
or
pex
16
gene
was
disrupted
.
As
found
in
Zellweger
syndrome
patients
,
peroxisomes
were
not
observed
in
the
homozygous
Drosophila
pex
3
mutant
,
which
was
larval
lethal
.
However
,
the
pex
16
homozygote
lacking
its
maternal
contribution
was
viable
and
still
maintained
a
small
number
of
peroxisome-like
granules
,
even
though
PEX
16
is
essential
for
the
biosynthesis
of
peroxisomes
in
humans
.
These
results
suggest
that
the
requirements
for
pex
3
and
pex
16
in
peroxisome
biosynthesis
in
Drosophila
are
different
,
and
the
role
of
PEX
16
orthologs
may
have
diverged
between
mammals
and
Drosophila
.
The
phenotypes
of
our
Zellweger
syndrome
model
flies
,
such
as
larval
lethality
in
pex
3
,
and
reduced
size
,
shortened
longevity
,
locomotion
defects
,
and
abnormal
lipid
metabolisms
in
pex
16
,
were
reminiscent
of
symptoms
of
this
disorder
,
although
the
Drosophila
pex
16
mutant
does
not
recapitulate
the
infant
death
of
Zellweger
syndrome
.
Furthermore
,
pex
16
mutants
showed
male-
specific
sterility
that
resulted
from
the
arrest
of
spermatocyte
maturation
.
pex
16
expressed
in
somatic
cyst
cells
but
not
germline
cells
had
an
essential
role
in
the
maturation
of
male
germline
cells
,
suggesting
that
peroxisome-dependent
signals
in
somatic
cyst
cells
could
contribute
to
the
progression
of
male
germ-cell
maturation
.
These
potential
Drosophila
models
for
Zellweger
syndrome
should
contribute
to
our
understanding
of
its
pathology
.
Diseases
Validation
Diseases presenting
"lack of understanding about the pathogenesis"
symptom
zellweger syndrome
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